| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C2orf78_chr2_73779183_73822148 | 73794013 | CATCTTGG others(14690): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 212 | 0.0047 | -14697 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73785624 | GAAGGAAA others(14689): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 212 | 0.0047 | -14696 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73788187 | AGGGAGAG others(14688): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 HG03486.hp2 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0010c0012 | a0001c0001t0001a0002c0003t0001a0010c0012t0001 | a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0181 others(2): Show |
6 | 212 | 0.0283 | -14695 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73791665 | CGTCTTAC others(14688): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp2 HG02055.hp2 others(7): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0109 others(6): Show |
10 | 212 | 0.0472 | -14695 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TEX26_chr13_30927656_30980500 | 30954877 | TAAGTACT others(14670): Show |
T | exon_loss_variant | HIGH | NA19012.hp1 | a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0240 | 1 | 414 | 0.0024 | -14677 | c.313 others(16): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MICAL2_chr11_12105590_12268785 | 12170910 | CAGGGAAG others(14442): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0133 | 1 | 358 | 0.0028 | -14449 | c.264 others(18): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18993371 | CCAGAATC others(14384): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0088 | 1 | 228 | 0.0044 | -14391 | c.21+ others(16): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
| HPSE2_chr10_98452077_99240852 | 98928128 | TAACAAAT others(14235): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01109.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0072 others(29): Show |
32 | 142 | 0.2254 | -14242 | c.611 others(21): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
| NBPF19_chr1_149470045_149561361 | 149535108 | ACGTACCA others(14218): Show |
A | exon_loss_variant | HIGH | HG01952.hp1 | a0068 | a0068c0096 | a0068c0096t0010 | a0068c0096t0010g0090 | 1 | 276 | 0.0036 | -14225 | c.836 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 70/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146073961 | CCAAGATC others(14186): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp1 |
a0088a0159 | a0088c0150a0159c0175 | a0088c0150t0006a0159c0175t0003 | a0088c0150t0006g0143 a0159c0175t0003g0177 |
2 | 283 | 0.0071 | -14193 | c.788 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 80/90 | chr1 | TogoVar | |||||||
| CCSER1_chr4_90122394_91610295 | 90964406 | CATCTGAA others(14175): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0013 | 1 | 38 | 0.0263 | -14182 | c.217 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| NR5A2_chr1_200022710_200182415 | 200155890 | TCTCGAAC others(14169): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 a0001c0002t0001g0237 |
2 | 286 | 0.0070 | -14176 | c.137 others(20): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146078626 | TCATCAAA others(14168): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0089 | a0089c0099 | a0089c0099t0006 | a0089c0099t0006g0142 | 1 | 283 | 0.0035 | -14175 | c.715 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146083394 | TAGACGCT others(14160): Show |
T | exon_loss_variant | HIGH | NA18939.hp1 NA18969.hp1 NA19078.hp1 others(2): Show |
a0039a0193a0194others(1): Show | a0039c0030a0193c0212a0194c0213others(1): Show | a0039c0030t0004a0193c0212t0004a0194c0213t0004others(1): Show | a0039c0030t0004g0224 a0039c0030t0004g0225 a0193c0212t0004g0223 others(2): Show |
5 | 283 | 0.0177 | -14167 | c.641 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 68/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146084255 | CCATAAAA others(14154): Show |
C | exon_loss_variant | HIGH | NA18969.hp2 | a0185 | a0185c0203 | a0185c0203t0004 | a0185c0203t0004g0244 | 1 | 283 | 0.0035 | -14161 | c.624 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 67/90 | chr1 | TogoVar | |||||||
| QPRT_chr16_29674180_29703699 | 29680001 | AGGCTGGA others(14154): Show |
A | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 320 | 0.0031 | -14161 | c.13+ others(13): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146098055 | ATCCAGCA others(14143): Show |
A | exon_loss_variant | HIGH | HG02155.hp1 | a0177 | a0177c0194 | a0177c0194t0004 | a0177c0194t0004g0243 | 1 | 283 | 0.0035 | -14150 | c.407 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 49/90 | 6301/13030 | chr1 | TogoVar | ||||||
| PCDHA2_chr5_140789852_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 202 | 0.0050 | -14112 | c.238 others(21): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHA3_chr5_140796057_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 208 | 0.0048 | -14112 | c.239 others(21): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHA4_chr5_140802068_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 212 | 0.0047 | -14112 | c.238 others(21): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHA5_chr5_140816613_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 220 | 0.0046 | -14112 | c.235 others(21): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHA6_chr5_140822960_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 236 | 0.0042 | -14112 | c.239 others(20): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHA7_chr5_140829269_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG02015.hp2 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0248 | 1 | 248 | 0.0040 | -14112 | c.105 others(15): Show |
p.Leu others(13): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/4 | 1169/5339 | 1054/2814 | 352/937 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
| DOCK3_chr3_50669927_51389198 | 50904643 | AGTTTAAG others(13979): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0164 | 1 | 212 | 0.0047 | -13986 | c.218 others(19): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CCDC66_chr3_56552175_56626837 | 56573699 | GAAGGGCT others(13850): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG01952.hp2 others(11): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002a0005c0006t0003 | a0002c0002t0002g0246 a0002c0002t0002g0286 a0002c0002t0002g0287 others(6): Show |
14 | 372 | 0.0376 | -13857 | c.936 others(17): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| KANK1_chr9_499695_751103 | 514141 | TCCCTTCC others(13783): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG02622.hp2 others(4): Show |
a0001a0004a0007others(1): Show | a0001c0054a0004c0011a0007c0014others(3): Show | a0001c0054t0008a0004c0011t0001a0007c0014t0001others(3): Show | a0001c0054t0008g0077 a0004c0011t0001g0076 a0007c0014t0001g0073 others(4): Show |
7 | 254 | 0.0276 | -13790 | c.-84 others(18): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SIPA1L1_chr14_71315476_71746209 | 71363372 | ACAGAAAC others(13768): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 174 | 0.0058 | -13775 | c.-46 others(21): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| TCTN3_chr10_95658401_95698927 | 95666176 | AGTGATCT others(13642): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0271 | 1 | 400 | 0.0025 | -13649 | c.159 others(18): Show |
TCTN3 | ENSG00000119977.22 | transcript | ENST00000371217.10 | protein_coding | 13/13 | chr10 | TogoVar | |||||||
| POTEJ_chr2_130606440_130663037 | 130633879 | CAGTTAGT others(13630): Show |
C | exon_loss_variant | HIGH | HG02300.hp1 | a0026 | a0026c0028 | a0026c0028t0001 | a0026c0028t0001g0039 | 1 | 131 | 0.0076 | -13637 | c.129 others(19): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MARCHF3_chr5_126862714_127035558 | 126892334 | GAGTGGTG others(13520): Show |
G | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 296 | 0.0034 | -13527 | c.393 others(18): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
| NPIPB15_chr16_74371306_74397115 | 74383653 | TGCCTGTA others(13455): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG01943.hp2 NA19070.hp2 |
a0000 | a0000c0007 | a0000c0007t0008 | a0000c0007t0008g0101 a0000c0007t0008g0154 a0000c0007t0008g0158 |
3 | 261 | 0.0115 | -13462 | c.250 others(14): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
| HLCS_chr21_36743626_36971669 | 36958222 | GACAGAGT others(13440): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0004 | a0004c0019 | a0004c0019t0112 | a0004c0019t0112g0258 | 1 | 258 | 0.0039 | -13447 | c.-50 others(14): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 2/11 | chr21 | TogoVar | |||||||
| WWOX_chr16_78094654_79217667 | 78337741 | ATGAAATA others(13253): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(33): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0085 others(33): Show |
36 | 142 | 0.2535 | -13260 | c.517 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | chr16 | TogoVar | |||||||
| CCDC192_chr5_127698391_127946507 | 127734365 | GGAATAAT others(13173): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 234 | 0.0043 | -13180 | c.115 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0002a0016a0017others(9): Show | a0002c0002a0016c0022a0017c0105others(12): Show | a0002c0002t0002a0016c0022t0002a0017c0105t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0007 others(47): Show |
51 | 308 | 0.1656 | -13144 | c.-38 others(14): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 1/48 | chr7 | TogoVar | |||||||
| GOLGA6C_chr15_75253334_75278455 | 75265352 | GGACGAAT others(13096): Show |
G | exon_loss_variant | HIGH | HG04115.hp2 | a0000 | a0000c0018 | a0000c0018t0012 | a0000c0018t0012g0128 | 1 | 200 | 0.0050 | -13103 | c.688 others(9): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 10/18 | 953/5603 | chr15 | TogoVar | ||||||
| SNTG1_chr8_49906407_50801692 | 50185808 | CACTATTG others(13088): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0105 | 1 | 106 | 0.0094 | -13095 | c.-28 others(19): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PSG4_chr19_43187702_43210638 | 43197560 | GTGTATGA others(13071): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0013 | a0013c0015 | a0013c0015t0009 | a0013c0015t0009g0044 | 1 | 300 | 0.0033 | -13078 | c.-51 others(13): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
| TMLHE_chrX_155484011_155617952 | 155560528 | ATGGTGGT others(13067): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(101): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0193 a0001c0001t0002g0003 a0001c0001t0002g0110 others(100): Show |
104 | 216 | 0.4815 | -13074 | c.-1- others(17): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| GCNT2_chr6_10516351_10634368 | 10520105 | GTACTAAA others(13027): Show |
G | exon_loss_variant | HIGH | HG02293.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0324 | 1 | 324 | 0.0031 | -13034 | c.-17 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| PSG4_chr19_43187702_43210638 | 43197627 | CATTGTCA others(13004): Show |
C | exon_loss_variant | HIGH | HG02486.hp2 NA18952.hp2 |
a0013 | a0013c0015 | a0013c0015t0009 | a0013c0015t0009g0043 | 2 | 300 | 0.0067 | -13011 | c.-51 others(13): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
| PGA4_chr11_61217347_61236694 | 61223849 | GGGCACAA others(12838): Show |
G | exon_loss_variant | HIGH | HG02630.hp1 | a0000 | a0000c0009 | a0000c0009t0005 | a0000c0009t0005g0108 | 1 | 304 | 0.0033 | -12845 | c.219 others(13): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
| HHAT_chr1_210323902_210681290 | 210428015 | TTGCTGAG others(12817): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0078 a0001c0001t0023g0077 |
2 | 268 | 0.0075 | -12824 | c.856 others(18): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SULT1A1_chr16_28600258_28615044 | 28602263 | CGCCCTGC others(12774): Show |
C | transcript_ablation | HIGH | HG02698.hp2 NA18942.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 432 | 0.0046 | -12781 | c.-51 others(11): Show |
p.0? | SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
| BPIFB4_chr20_33074643_33116751 | 33094289 | GCCATCTC others(12734): Show |
G | exon_loss_variant | HIGH | NA19010.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0081 | 1 | 344 | 0.0029 | -12741 | c.134 others(17): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122580868 | CCCCAGTC others(12696): Show |
C | exon_loss_variant | HIGH | HG02738.hp1 HG03017.hp1 HG04184.hp2 others(2): Show |
a0015 | a0015c0014a0015c0044 | a0015c0014t0001a0015c0044t0002 | a0015c0014t0001g0087 a0015c0014t0001g0089 a0015c0014t0001g0112 others(2): Show |
5 | 282 | 0.0177 | -12703 | c.102 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 12/56 | 1046/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 others(34): Show |
40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122584588 | GTGGCCAA others(12696): Show |
G | exon_loss_variant | HIGH | NA19009.hp1 | a0011 | a0011c0038 | a0011c0038t0001 | a0011c0038t0001g0060 | 1 | 282 | 0.0036 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122585799 | GCCCAGGT others(12696): Show |
G | exon_loss_variant | HIGH | HG03540.hp1 | a0090 | a0090c0046 | a0090c0046t0001 | a0090c0046t0001g0111 | 1 | 282 | 0.0036 | -12703 | c.146 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CHIC1_chrX_73558197_73692111 | 73599200 | CTGTTTGA others(12681): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(14): Show |
17 | 208 | 0.0817 | -12688 | c.507 others(19): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar |