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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(859): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 267 | 0.0037 | 866 | c.189 others(881): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(859): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 267 | 0.0037 | 866 | c.189 others(881): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930588 | C | CCAGGGTT others(859): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 447 | 0.0022 | 866 | c.*50 others(877): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4781 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(859): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 98 | 0.0102 | 866 | c.41- others(883): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(859): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 51 | 0.0392 | 866 | c.*24 others(877): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(859): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 289 | 0.0035 | 866 | c.*35 others(885): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467385 | A | AGGTGTGT others(859): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 222 | 0.0045 | 866 | c.*10 others(877): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 876 | chrX | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACAATA others(860): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 30 | 0.0333 | 867 | c.505 others(886): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0027 a0001c0001t0001g0131 a0001c0001t0001g0133 others(2): Show |
6 | 32 | 0.1875 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 27 | 0.0370 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0208 a0001c0001t0005g0209 |
2 | 28 | 0.0714 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2520300 | C | CCCAATGG others(860): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG03195.hp1 |
a0001a0004 | a0001c0017a0004c0034a0004c0039 | a0001c0017t0006a0004c0034t0009a0004c0039t0009 | a0001c0017t0006g0008 a0004c0034t0009g0041 a0004c0039t0009g0040 |
3 | 103 | 0.0291 | 867 | c.139 others(886): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(860): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 5 | 0.2000 | 867 | c.234 others(888): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133445 | A | ATGGTGGC others(860): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0245 | 1 | 374 | 0.0027 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0240 | 1 | 252 | 0.0040 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18968.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0106 others(1): Show |
4 | 255 | 0.0157 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02897.hp2 |
a0002a0004 | a0002c0002a0004c0015 | a0002c0002t0002a0004c0015t0007 | a0002c0002t0002g0147 a0002c0002t0002g0148 a0004c0015t0007g0152 |
3 | 254 | 0.0118 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(860): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 174 | 0.0057 | 867 | c.342 others(888): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(860): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0139 | 1 | 11 | 0.0909 | 867 | c.-26 others(876): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(860): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0187 | 1 | 97 | 0.0103 | 867 | c.923 others(886): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251087 | A | ACATCCCC others(860): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 71 | 0.0141 | 867 | c.207 others(886): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634545 | C | CCCTTCCT others(860): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 239 | 0.0042 | 867 | c.105 others(884): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928068 | G | GTGGTGGT others(860): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0212 | 1 | 271 | 0.0037 | 867 | c.190 others(886): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(860): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0160 | 1 | 65 | 0.0154 | 867 | c.62- others(884): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(860): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0083 a0001c0001t0001g0173 a0001c0001t0001g0176 others(47): Show |
50 | 114 | 0.4386 | 867 | c.62- others(884): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(860): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 12 | 0.0833 | 867 | c.617 others(884): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(860): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 16 | 0.0625 | 867 | c.-27 others(878): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(860): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 23 | 0.0435 | 867 | c.*28 others(878): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(860): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0047 others(1): Show |
6 | 137 | 0.0438 | 867 | c.94- others(880): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(860): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0034 |
3 | 134 | 0.0224 | 867 | c.94- others(880): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63571806 | C | CGGTGGGC others(860): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0054 | a0054c0068 | a0054c0068t0001 | a0054c0068t0001g0220 | 1 | 93 | 0.0108 | 867 | c.278 others(882): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(860): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0096 | 1 | 119 | 0.0084 | 867 | c.41- others(882): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(860): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 295 | 0.0034 | 867 | c.-25 others(884): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(860): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 144 | 0.0069 | 867 | c.*11 others(888): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284518 | A | AAAAATAA others(860): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 396 | 0.0051 | 867 | c.-30 others(878): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2897 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(860): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 188 | 0.0053 | 867 | c.-30 others(878): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(860): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0025 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0025g0000 |
21 | 208 | 0.1010 | 867 | c.-30 others(878): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(860): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG02027.hp1 HG02080.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0000 a0001c0001t0005g0000 |
10 | 197 | 0.0508 | 867 | c.-30 others(878): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATTTATA others(860): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 3 | 0.3333 | 867 | c.174 others(886): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(860): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 80 | 0.0125 | 867 | c.125 others(884): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(860): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0074 | a0001c0003t0074g0054 | 1 | 74 | 0.0135 | 867 | c.648 others(886): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(860): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 32 | 0.0313 | 867 | c.218 others(882): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43500184 | A | ATGATGGT others(860): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 167 | 0.0060 | 867 | c.748 others(884): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543960 | G | GTGGTGGT others(860): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0275 | 1 | 334 | 0.0030 | 867 | c.152 others(884): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(860): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0157 | 1 | 118 | 0.0085 | 867 | c.-75 others(886): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(860): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 | 1 | 283 | 0.0035 | 867 | c.141 others(884): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79257563 | T | TGGTGGTG others(860): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0004 | 1 | 23 | 0.0435 | 867 | c.326 others(890): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(860): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 16 | 0.0625 | 867 | c.*57 others(878): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109353988 | T | TGTCTATG others(860): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0123 | 1 | 264 | 0.0038 | 867 | c.176 others(886): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398341 | C | CCGTCACC others(860): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 197 | 0.0051 | 867 | c.106 others(884): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |