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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NLGN1_chr3_173392744_174299372 | 173491002 | GATGGGGT others(8950): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0027 | a0001c0001t0003g0026 a0001c0007t0027g0020 |
2 | 44 | 0.0455 | -8957 | c.-32 others(22): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55491783 | TAAAGGTG others(8942): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 338 | 0.0030 | -8949 | c.*17 others(21): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29581978 | GTAGTTAG others(8938): Show |
G | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 134 | 0.0075 | -8945 | c.704 others(19): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184811363 | TGGCCTCC others(8898): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0197 | 1 | 346 | 0.0029 | -8905 | c.-33 others(17): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97150885 | TCTTTCCC others(8897): Show |
T | exon_loss_variant | HIGH | NA19079.hp2 | a0035 | a0035c0040 | a0035c0040t0001 | a0035c0040t0001g0122 | 1 | 210 | 0.0048 | -8904 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2871944 | CCAGGCGT others(8896): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0129 | a0002c0003t0129g0055 | 1 | 216 | 0.0046 | -8903 | c.81- others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97150889 | TCCCCCTC others(8893): Show |
T | exon_loss_variant | HIGH | NA19056.hp2 | a0033 | a0033c0025 | a0033c0025t0001 | a0033c0025t0001g0123 | 1 | 210 | 0.0048 | -8900 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65602353 | ACACACAC others(8863): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 370 | 0.0027 | -8870 | c.204 others(18): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LHX4_chr1_180225264_180283984 | 180255306 | ATGCAGGC others(8823): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 400 | 0.0025 | -8830 | c.248 others(17): Show |
LHX4 | ENSG00000121454.6 | transcript | ENST00000263726.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 80018213 | ATTTTTAG others(8822): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01261.hp1 others(21): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0004g0094 others(21): Show |
24 | 332 | 0.0723 | -8829 | c.-63 others(17): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99400169 | TGCCAGAC others(8816): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0041 a0001c0001t0003g0018 a0001c0001t0003g0020 others(2): Show |
5 | 46 | 0.1087 | -8823 | c.157 others(18): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 11/26 | chr12 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 73993735 | CAGCAGCT others(8807): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0013 | 2 | 378 | 0.0053 | -8814 | c.-71 others(17): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94168312 | GGACTTTG others(8786): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02818.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0007a0006c0006t0003 | a0001c0001t0007g0243 a0006c0006t0003g0016 a0006c0006t0003g0075 others(1): Show |
6 | 406 | 0.0148 | -8793 | c.322 others(16): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZSCAN5C_chr19_56197273_56214461 | 56201994 | TAAAACTT others(8777): Show |
T | transcript_ablation | HIGH | HG02896.hp2 HG02897.hp1 HG03209.hp1 others(1): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 4 | 470 | 0.0085 | -8784 | c.-45 others(10): Show |
p.0? | ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105231595 | GCAGCCCT others(8764): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 66 | 0.0152 | -8771 | c.694 others(16): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
CSH2_chr17_63867016_63878677 | 63869910 | CACCCGAG others(8760): Show |
C | transcript_ablation | HIGH | HG00099.hp1 | a0004 | a0004c0000 | a0004c0000t0000 | a0004c0000t0000g0000 | 1 | 401 | 0.0025 | -8767 | c.-50 others(11): Show |
p.0? | CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45501801 | TGAGGGAT others(8758): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 240 | 0.0042 | -8765 | c.176 others(19): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79639945 | GTGGTTTC others(8754): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 | 1 | 24 | 0.0417 | -8761 | c.344 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EFCC1_chr3_128996304_129045742 | 129026309 | CTGTCCCT others(8739): Show |
C | exon_loss_variant | HIGH | HG02717.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0163 | 1 | 352 | 0.0028 | -8746 | c.981 others(17): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113431936 | TGAACTCC others(8731): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0014 | a0014c0054 | a0014c0054t0001 | a0014c0054t0001g0091 | 1 | 260 | 0.0038 | -8738 | c.379 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ZNF701_chr19_52565287_52592174 | 52569518 | TACTCCGT others(8718): Show |
T | exon_loss_variant | HIGH | HG03490.hp1 | a0007 | a0007c0011 | a0007c0011t0178 | a0007c0011t0178g0039 | 1 | 454 | 0.0022 | -8725 | c.-87 others(13): Show |
ZNF701 | ENSG00000167562.14 | transcript | ENST00000391785.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4946398 | GCTCCTTT others(8606): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0092 others(9): Show |
12 | 202 | 0.0594 | -8613 | c.-14 others(21): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4946925 | TCATGCAA others(8606): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0030 others(53): Show |
56 | 196 | 0.2857 | -8613 | c.-14 others(21): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20122757 | TATTTTCC others(8578): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03139.hp2 HG03453.hp2 others(3): Show |
a0002a0007a0023others(1): Show | a0002c0002a0007c0010a0023c0029others(1): Show | a0002c0002t0002a0007c0010t0003a0023c0029t0003others(1): Show | a0002c0002t0002g0134 a0007c0010t0003g0130 a0007c0010t0003g0131 others(3): Show |
6 | 234 | 0.0256 | -8585 | c.860 others(19): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | chr20 | TogoVar | |||||||
FAR1_chr11_13663668_13737346 | 13682644 | TGTCACCC others(8540): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0276 | 1 | 350 | 0.0029 | -8547 | c.-7- others(16): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TRIM37_chr17_58993202_59111880 | 59032322 | GAGACCAT others(8514): Show |
G | intron_variant | MODIFIER | NA18943.hp2 NA18955.hp1 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0266 a0001c0001t0001g0318 a0001c0001t0001g0319 others(2): Show |
5 | 340 | 0.0147 | -8521 | c.175 others(17): Show |
TRIM37 | ENSG00000108395.14 | transcript | ENST00000262294.12 | protein_coding | 17/23 | chr17 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178654790 | CCTTCTTT others(8514): Show |
C | exon_loss_variant | HIGH | HG02280.hp1 | a0073 | a0073c0053 | a0073c0053t0002 | a0073c0053t0002g0113 | 1 | 240 | 0.0042 | -8521 | c.366 others(11): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 190/363 | 38385/109224 | chr2 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138875859 | GCCTGTAA others(8510): Show |
G | exon_loss_variant | HIGH | HG03471.hp1 | a0015 | a0015c0020 | a0015c0020t0012 | a0015c0020t0012g0218 | 1 | 324 | 0.0031 | -8517 | c.157 others(18): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZPBP_chr7_49932441_50098246 | 50034480 | AACTGAAA others(8507): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0238 | 1 | 276 | 0.0036 | -8514 | c.488 others(18): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CTDSPL_chr3_37856880_37989469 | 37936924 | TGCTCTTG others(8498): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 others(13): Show |
16 | 164 | 0.0976 | -8505 | c.80- others(16): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30828024 | CCTGGCAG others(8480): Show |
C | exon_loss_variant | HIGH | HG00544.hp1 | a0005 | a0005c0006 | a0005c0006t0040 | a0005c0006t0040g0281 | 1 | 280 | 0.0036 | -8487 | c.904 others(18): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/15 | chr3 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172503881 | ACAGATCA others(8480): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02015.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 others(24): Show |
27 | 40 | 0.6750 | -8487 | c.553 others(21): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
CYP3A5_chr7_99643194_99684996 | 99648651 | CTTGTGGA others(8479): Show |
C | exon_loss_variant | HIGH | HG02886.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0161 | 1 | 290 | 0.0034 | -8486 | c.102 others(18): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 12/13 | chr7 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229454878 | AAAAGAAA others(8459): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0150 a0003c0004t0001g0060 |
2 | 174 | 0.0115 | -8466 | c.126 others(20): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
PLA2G10_chr16_14667548_14699308 | 14690147 | CAGATGGG others(8458): Show |
C | exon_loss_variant | HIGH | HG03942.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0043 | 1 | 406 | 0.0025 | -8465 | c.-43 others(13): Show |
PLA2G10 | ENSG00000069764.10 | transcript | ENST00000438167.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
MEI4_chr6_77648039_77932045 | 77717202 | CGTGAACA others(8455): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show |
30 | 358 | 0.0838 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77717373 | AGGTTTTA others(8455): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0004 | 1 | 205 | 0.0049 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77717503 | GGGCTGGG others(8455): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01891.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0238 a0001c0001t0003g0151 a0001c0001t0003g0165 others(18): Show |
21 | 350 | 0.0600 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32465465 | GGAGACCA others(8411): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0192 | 1 | 230 | 0.0043 | -8418 | c.166 others(19): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39702769 | CTGTAGAC others(8389): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 334 | 0.0030 | -8396 | c.63+ others(16): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4155866 | ACTTCCCG others(8353): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0223 | 1 | 402 | 0.0025 | -8360 | c.156 others(15): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5310909 | AAGCGACT others(8346): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0162 | 1 | 350 | 0.0029 | -8353 | c.163 others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96061027 | AATGCCAC others(8327): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094 | 1 | 370 | 0.0027 | -8334 | c.27+ others(17): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1394393 | ACCTCCTC others(8315): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -8322 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42635875 | GTGGGCAT others(8282): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0201 | 1 | 208 | 0.0048 | -8289 | c.136 others(18): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130881495 | AAGAGCGG others(8237): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0120 | 1 | 142 | 0.0070 | -8244 | c.40- others(17): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107692856 | CCTGTTGT others(8236): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 HG02965.hp1 others(3): Show |
a0003a0006 | a0003c0003a0003c0011a0006c0012 | a0003c0003t0008a0003c0003t0056a0003c0011t0009others(1): Show | a0003c0003t0008g0044 a0003c0003t0008g0045 a0003c0003t0008g0119 others(3): Show |
6 | 220 | 0.0273 | -8243 | c.-9- others(16): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156657939 | GGGGAGAG others(8205): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0006g0038 others(6): Show |
9 | 148 | 0.0608 | -8212 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84348731 | CCAACTTT others(8196): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0032 a0001c0001t0004g0016 a0001c0001t0004g0026 others(3): Show |
6 | 82 | 0.0732 | -8203 | c.-24 others(21): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185383280 | GGTTCCAA others(8195): Show |
G | intron_variant | MODIFIER | NA18982.hp2 NA19077.hp1 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0002a0010c0017t0002 | a0001c0001t0002g0031 a0010c0017t0002g0011 |
2 | 276 | 0.0072 | -8202 | c.-86 others(19): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 1/13 | chr3 | TogoVar |