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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM3_chr9_70524060_71126621 | 70711550 | TCTCTGAC others(17982): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0018 | a0003c0018t0005 | a0003c0018t0005g0108 | 1 | 214 | 0.0047 | -17989 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703047 | GTGTGTGT others(17980): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 |
a0001a0004 | a0001c0004a0004c0012 | a0001c0004t0002a0004c0012t0010 | a0001c0004t0002g0144 a0004c0012t0010g0150 |
2 | 214 | 0.0094 | -17987 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704692 | CACACACA others(17980): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(41): Show | a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0171 others(62): Show |
65 | 214 | 0.3037 | -17987 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703049 | GTGTGTGT others(17978): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(33): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(28): Show | a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0006g0130 others(33): Show |
36 | 214 | 0.1682 | -17985 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704694 | CACACACA others(17978): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02735.hp2 others(4): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0043others(4): Show | a0001c0001t0001g0133 a0001c0002t0001g0082 a0001c0008t0043g0093 others(4): Show |
7 | 214 | 0.0327 | -17985 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703051 | GTGTGTGT others(17976): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03195.hp1 others(4): Show |
a0001a0002a0005 | a0001c0002a0001c0004a0002c0011others(1): Show | a0001c0002t0002a0001c0004t0001a0002c0011t0003others(2): Show | a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0004t0001g0029 others(4): Show |
7 | 214 | 0.0327 | -17983 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704696 | CACACACA others(17976): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG02622.hp2 others(2): Show |
a0001a0003a0005 | a0001c0002a0001c0007a0003c0013others(2): Show | a0001c0002t0002a0001c0007t0004a0003c0013t0009others(2): Show | a0001c0002t0002g0092 a0001c0007t0004g0122 a0003c0013t0009g0035 others(2): Show |
5 | 214 | 0.0234 | -17983 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703053 | GTGTGTGT others(17974): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(14): Show | a0001c0001t0001g0023 a0001c0001t0001g0127 a0001c0002t0001g0037 others(24): Show |
27 | 214 | 0.1262 | -17981 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703055 | GTGTGTGT others(17972): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02809.hp1 |
a0001a0003 | a0001c0002a0003c0029 | a0001c0002t0007a0003c0029t0005 | a0001c0002t0007g0197 a0003c0029t0005g0022 |
2 | 214 | 0.0094 | -17979 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704700 | CACACACA others(17972): Show |
C | intron_variant | MODIFIER | HG00140.hp1 NA18967.hp2 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0008a0002c0005t0003 | a0002c0003t0008g0009 a0002c0005t0003g0062 |
2 | 214 | 0.0094 | -17979 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703057 | GTGTGTGT others(17970): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01081.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0066a0002c0003t0003a0002c0005t0026 | a0001c0001t0066g0209 a0002c0003t0003g0069 a0002c0005t0026g0072 |
3 | 214 | 0.0140 | -17977 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704702 | CACACACA others(17970): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0067 others(19): Show |
22 | 214 | 0.1028 | -17977 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704704 | CACACACA others(17968): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0028 a0001c0001t0040g0141 |
2 | 214 | 0.0094 | -17975 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70703061 | GTGTTTGT others(17966): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0039 | 1 | 214 | 0.0047 | -17973 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70704708 | CACACACT others(17964): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0131 | 1 | 214 | 0.0047 | -17971 | c.127 others(21): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28195923 | CTGGAAAA others(17836): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0004 | 1 | 196 | 0.0051 | -17843 | c.934 others(19): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 5/22 | chr22 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12697915 | CAGCCTGG others(17541): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0181 | 1 | 290 | 0.0035 | -17548 | c.290 others(18): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
PGA4_chr11_61217347_61236694 | 61219175 | CAGCTAGA others(17512): Show |
C | transcript_ablation | HIGH | HG01978.hp1 HG03492.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 304 | 0.0066 | -17519 | c.-32 others(11): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202430702 | GTAATCCC others(17483): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0023others(1): Show | a0001c0001t0005g0015 a0001c0001t0010g0037 a0001c0001t0010g0039 others(4): Show |
7 | 224 | 0.0313 | -17490 | c.77- others(17): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44499072 | ATAGGGAA others(17350): Show |
A | exon_loss_variant | HIGH | HG00597.hp1 | a0000 | a0000c0011 | a0000c0011t0025 | a0000c0011t0025g0111 | 1 | 294 | 0.0034 | -17357 | c.156 others(14): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/12 | 2778/3958 | chr21 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61219367 | CAAGCTCC others(17320): Show |
C | transcript_ablation | HIGH | HG00741.hp2 HG01433.hp1 HG02257.hp2 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 4 | 304 | 0.0132 | -17327 | c.-30 others(11): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113287153 | ACTGCTAA others(17277): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 80 | 0.0125 | -17284 | c.401 others(18): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 2/70 | chr8 | TogoVar | |||||||
CR1_chr1_207491157_207646765 | 207555265 | AGCCTTCA others(17088): Show |
A | exon_loss_variant | HIGH | HG02258.hp2 HG02622.hp2 HG02965.hp2 others(4): Show |
a0013a0025 | a0013c0012a0025c0025 | a0013c0012t0001a0013c0012t0019a0025c0025t0001 | a0013c0012t0001g0015 a0013c0012t0001g0019 a0013c0012t0001g0021 others(4): Show |
7 | 360 | 0.0194 | -17095 | c.310 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2132008 | AGAGGTCC others(16815): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0010 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0003t0010g0019 |
3 | 104 | 0.0289 | -16822 | c.477 others(19): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show |
13 | 200 | 0.0650 | -16791 | c.239 others(21): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA2_chr5_140789852_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01978.hp2 others(10): Show |
a0001a0006a0011 | a0001c0001a0006c0006a0011c0010 | a0001c0001t0001a0006c0006t0001a0011c0010t0001 | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 others(10): Show |
13 | 202 | 0.0644 | -16791 | c.238 others(21): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA3_chr5_140796057_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(10): Show |
13 | 208 | 0.0625 | -16791 | c.239 others(21): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA4_chr5_140802068_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01978.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0006 a0003c0003t0001g0033 others(10): Show |
13 | 212 | 0.0613 | -16791 | c.238 others(21): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA5_chr5_140816613_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01978.hp2 others(10): Show |
a0001a0006a0014 | a0001c0001a0006c0006a0014c0012 | a0001c0001t0001a0006c0006t0001a0014c0012t0001 | a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0195 others(10): Show |
13 | 220 | 0.0591 | -16791 | c.235 others(21): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA6_chr5_140822960_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0052 others(11): Show |
14 | 236 | 0.0593 | -16791 | c.239 others(21): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA7_chr5_140829269_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(12): Show |
a0002a0003 | a0002c0001a0003c0006 | a0002c0001t0001a0003c0006t0001 | a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0021 others(12): Show |
15 | 248 | 0.0605 | -16791 | c.235 others(20): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0005a0012a0018 | a0005c0005a0012c0010a0018c0017 | a0005c0005t0001a0012c0010t0001a0018c0017t0001 | a0005c0005t0001g0001 a0005c0005t0001g0005 a0005c0005t0001g0006 others(12): Show |
15 | 258 | 0.0581 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | |||
KIR2DL1_chr19_54764793_54789322 | 54766597 | GAGAGGCC others(16435): Show |
G | exon_loss_variant | HIGH | HG00280.hp1 | a0012 | a0012c0014 | a0012c0014t0013 | a0012c0014t0013g0044 | 1 | 343 | 0.0029 | -16442 | c.-32 others(12): Show |
KIR2DL1 | ENSG00000125498.20 | transcript | ENST00000336077.11 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81627315 | GTGTCAAG others(16269): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00597.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0104 | 1 | 304 | 0.0033 | -16276 | c.783 others(17): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/16 | chr3 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0002a0016a0049others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0017 others(21): Show |
27 | 282 | 0.0957 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SESTD1_chr2_179096678_179269832 | 179200620 | TATCTACA others(16204): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(29): Show | a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 others(109): Show |
113 | 274 | 0.4124 | -16211 | c.-25 others(18): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
XKR4_chr8_55097028_55547054 | 55463588 | GTTCAAAA others(15917): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0017 | 1 | 182 | 0.0055 | -15924 | c.100 others(21): Show |
XKR4 | ENSG00000206579.10 | transcript | ENST00000327381.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF786_chr7_149064641_149095718 | 149079820 | CGGCCTCC others(15891): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 | a0009 | a0009c0003 | a0009c0003t0008 | a0009c0003t0008g0022 | 1 | 280 | 0.0036 | -15898 | c.-50 others(13): Show |
ZNF786 | ENSG00000197362.15 | transcript | ENST00000491431.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15544281 | GCTTCATT others(15434): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0031 | a0001c0001t0002g0221 a0001c0001t0004g0218 a0001c0001t0004g0219 others(11): Show |
14 | 372 | 0.0376 | -15441 | c.138 others(18): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61221506 | CGCCCAAC others(15181): Show |
C | transcript_ablation | HIGH | HG00544.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 304 | 0.0033 | -15188 | c.-89 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99599854 | GATTTAGA others(15160): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0004 | 1 | 48 | 0.0208 | -15167 | c.127 others(21): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 9/26 | chr12 | TogoVar | |||||||
SLC35F4_chr14_57558920_57871092 | 57666945 | TAGAAAGG others(14965): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 218 | 0.0046 | -14972 | c.104 others(19): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
KIR3DL2_chr19_54845443_54872207 | 54852574 | CTGTCCTG others(14942): Show |
C | exon_loss_variant | HIGH | HG00741.hp2 | a0000 | a0000c0032 | a0000c0032t0007 | a0000c0032t0007g0163 | 1 | 441 | 0.0023 | -14949 | c.355 others(12): Show |
KIR3DL2 | ENSG00000240403.5 | transcript | ENST00000326321.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
PGA4_chr11_61217347_61236694 | 61221770 | CGTAGGCC others(14917): Show |
C | transcript_ablation | HIGH | HG00280.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 304 | 0.0033 | -14924 | c.-63 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61971859 | GGTACCTG others(14878): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0009 | a0009c0054 | a0009c0054t0004 | a0009c0054t0004g0127 | 1 | 158 | 0.0063 | -14885 | c.367 others(20): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61221869 | GGAGAAAG others(14818): Show |
G | transcript_ablation | HIGH | HG03492.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 304 | 0.0033 | -14825 | c.-53 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61221906 | GAGAGAGA others(14781): Show |
G | transcript_ablation | HIGH | HG02976.hp1 HG03654.hp1 NA18906.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 304 | 0.0099 | -14788 | c.-49 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
PGA3_chr11_61198515_61218098 | 61203311 | TCCCCATG others(14780): Show |
T | transcript_ablation | HIGH | HG03130.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 311 | 0.0032 | -14787 | c.-25 others(10): Show |
p.0? | PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15940997 | GTGCCTTC others(14760): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 266 | 0.0038 | -14767 | c.375 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73793737 | AAAATATA others(14690): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0116 |
4 | 212 | 0.0189 | -14697 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |