regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMA2_chr6_128878138_129521566 | 128998370 | CAGAAGTA others(6052): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(41): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0011a0002c0003others(34): Show | a0001c0001t0001a0001c0011t0002a0002c0003t0003others(36): Show | a0001c0001t0001g0052a0001c0011t0002g0003a0002c0003t0003g0038others(41): Show | 44 | 88 | 0.5000 | -6059 | c.113 others(19): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATAT1_chr6_30621874_30651821 | 30636323 | ACCTGTAA others(6051): Show |
A | exon_loss_variant | HIGH | NA20129.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0164 | 1 | 405 | 0.0025 | -6058 | c.538 others(16): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72875530 | TTGCAAAT others(6051): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(139): Show | 142 | 164 | 0.8659 | -6058 | c.580 others(19): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 128998379 | GATGACAG others(6051): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0004a0022 | a0004c0051a0022c0019 | a0004c0051t0001a0022c0019t0002 | a0004c0051t0001g0008a0022c0019t0002g0012 | 2 | 88 | 0.0227 | -6058 | c.113 others(19): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | chr6 | TogoVar | ||||||
NIBAN1_chr1_184786032_184979508 | 184845594 | CAAAAATT others(6049): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(122): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0056a0001c0001t0002g0021a0001c0001t0002g0024others(122): Show | 125 | 256 | 0.4883 | -6056 | c.602 others(19): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87347091 | TTAGTATT others(6048): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0249a0001c0001t0005g0154a0001c0001t0005g0155others(58): Show | 62 | 390 | 0.1590 | -6055 | c.695 others(17): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91734062 | CTTTTCTG others(6044): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0027others(3): Show | 6 | 42 | 0.1429 | -6051 | c.115 others(20): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GRID2_chr4_92298966_93779566 | 93638288 | TTAAAACT others(6044): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02922.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(11): Show | 14 | 34 | 0.4118 | -6051 | c.236 others(21): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HOMER2_chr15_82843983_82957720 | 82882868 | ACACCAGC others(6043): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(240): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(240): Show | 243 | 348 | 0.6983 | -6050 | c.162 others(17): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 2/8 | chr15 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113497205 | TAAGATCA others(6043): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01070.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0072a0001c0001t0002g0089a0001c0001t0003g0055others(67): Show | 70 | 236 | 0.2966 | -6050 | c.317 others(19): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRP2_chr2_169122109_169367534 | 169248605 | CAAAAAAC others(6040): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0039a0001c0090a0001c0099others(21): Show | a0001c0039t0001a0001c0090t0007a0001c0099t0001others(21): Show | a0001c0039t0001g0020a0001c0090t0007g0040a0001c0099t0001g0107others(22): Show | 25 | 250 | 0.1000 | -6047 | c.277 others(19): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 19/78 | chr2 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79966892 | TAAGAATA others(6038): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(181): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0047others(178): Show | 184 | 268 | 0.6866 | -6045 | c.142 others(20): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98886464 | GGGAAGGC others(6037): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 316 | 0.0032 | -6044 | c.-11 others(19): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89460814 | TCTGTCTC others(6035): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp1 others(44): Show |
a0002a0004a0006 | a0002c0003a0002c0005a0002c0011others(3): Show | a0002c0003t0002a0002c0003t0003a0002c0003t0011others(6): Show | a0002c0003t0002g0008a0002c0003t0003g0013a0002c0003t0003g0015others(44): Show | 47 | 200 | 0.2350 | -6042 | c.269 others(20): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRID2_chr4_92298966_93779566 | 92934376 | TTTTGTAT others(6031): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 NA18950.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0002t0001g0004 | 3 | 34 | 0.0882 | -6038 | c.245 others(21): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51874764 | TAAAAACA others(6031): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG00741.hp2 others(69): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0032others(46): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(53): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0058others(69): Show | 72 | 134 | 0.5373 | -6038 | c.735 others(19): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 46/66 | chr6 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166755885 | TAAGAGAT others(6028): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0085others(100): Show | 103 | 144 | 0.7153 | -6035 | c.710 others(17): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 7/10 | chr4 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133583273 | TAAGATCA others(6019): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0016others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0028a0001c0001t0001g0029others(33): Show | 36 | 176 | 0.2046 | -6026 | c.126 others(19): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
EXOSC7_chr3_44971244_45016471 | 45003609 | TAGCTGGA others(6001): Show |
T | exon_loss_variant | HIGH | NA19057.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0258 | 1 | 340 | 0.0029 | -6008 | c.492 others(17): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48249131 | AGGTTGCA others(5998): Show |
A | exon_loss_variant | HIGH | NA18977.hp1 NA19001.hp2 |
a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0158a0001c0004t0025g0159 | 2 | 362 | 0.0055 | -6005 | c.-25 others(16): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75272456 | CTGGGTTT others(5992): Show |
C | splice_region_variant | LOW | HG03453.hp1 | a0001 | a0001c0024 | a0001c0024t0020 | a0001c0024t0020g0134 | 1 | 200 | 0.0050 | -5999 | c.*22 others(11): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 18/18 | chr15 | TogoVar | ||||||
PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0010a0000c0007t0005g0074 | 5 | 324 | 0.0154 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51629415 | TCTGACAG others(5979): Show |
T | exon_loss_variant | HIGH | HG00609.hp2 HG02080.hp1 HG02129.hp2 others(7): Show |
a0009a0012a0018 | a0009c0016a0009c0029a0009c0031others(2): Show | a0009c0016t0003a0009c0029t0003a0009c0031t0003others(3): Show | a0009c0016t0003g0019a0009c0016t0003g0050a0009c0016t0003g0052others(6): Show | 10 | 414 | 0.0242 | -5986 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | 708/2993 | chr19 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24636823 | AAAAATAA others(5973): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 116 | 0.0086 | -5980 | c.63- others(17): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81934029 | ACAGGGTC others(5962): Show |
A | splice_region_variant | LOW | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0008 | 1 | 360 | 0.0028 | -5969 | c.*11 others(11): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141578085 | CGTCCATG others(5958): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266a0001c0001t0003g0267a0001c0001t0003g0268 | 3 | 274 | 0.0110 | -5965 | c.102 others(18): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124185316 | TCTAACAA others(5944): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0052 | a0007c0052t0008 | a0007c0052t0008g0075 | 1 | 116 | 0.0086 | -5951 | c.74- others(17): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | chr3 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12116556 | AACTTTTA others(5941): Show |
A | exon_loss_variant | HIGH | HG00621.hp1 | a0000 | a0000c0016 | a0000c0016t0021 | a0000c0016t0021g0265 | 1 | 374 | 0.0027 | -5948 | c.232 others(15): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/17 | chr10 | TogoVar | ||||||
SPRR2B_chr1_153065226_153076611 | 153070684 | CTGCTGGC others(5920): Show |
C | exon_loss_variant | HIGH | NA18982.hp2 | a0000 | a0000c0004 | a0000c0004t0006 | a0000c0004t0006g0020 | 1 | 430 | 0.0023 | -5927 | c.-50 others(9): Show |
SPRR2B | ENSG00000196805.8 | transcript | ENST00000368755.3 | protein_coding | 1/2 | 217/676 | chr1 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48547117 | TACACATG others(5917): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0130 | 1 | 178 | 0.0056 | -5924 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41346027 | AAAAAAAA others(5917): Show |
A | exon_loss_variant | HIGH | HG02293.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0251 | 1 | 314 | 0.0032 | -5924 | c.397 others(16): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADGRL4_chr1_78884764_79011730 | 78927923 | AAGATTTT others(5911): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0031others(9): Show | 12 | 390 | 0.0308 | -5918 | c.877 others(16): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156521329 | CAACAAGA others(5910): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 150 | 0.0067 | -5917 | c.294 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158116851 | GGATGCTT others(5890): Show |
G | exon_loss_variant | HIGH | HG00280.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0146 | 1 | 342 | 0.0029 | -5897 | c.340 others(15): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UPK3BL2_chr7_102532919_102548696 | 102536844 | CCTGTAAT others(5888): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG01255.hp1 HG01258.hp2 others(4): Show |
a0000 | a0000c0005 | a0000c0005t0007 | a0000c0005t0007g0003 | 7 | 182 | 0.0385 | -5895 | c.112 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206049268 | AAAGCATG others(5879): Show |
A | splice_donor_variant others(4): Show |
HIGH | NA18946.hp2 NA18975.hp1 NA18995.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0006 | a0001c0001t0006g0030a0001c0001t0006g0031a0001c0001t0006g0032others(1): Show | 5 | 334 | 0.0150 | -5886 | c.-40 others(14): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10411810 | CGGCTGGC others(5867): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 314 | 0.0032 | -5874 | c.-24 others(17): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TANC2_chr17_62961235_63432703 | 63104766 | GCTTTCTG others(5862): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0106a0001c0001t0002g0214a0001c0001t0009g0216 | 3 | 266 | 0.0113 | -5869 | c.322 others(18): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 4/27 | chr17 | TogoVar | ||||||
PCDHB2_chr5_141089615_141103703 | 141096905 | CTCGGTGC others(5846): Show |
C | frameshift_variant others(4): Show |
HIGH | HG03579.hp1 | a0000 | a0000c0014 | a0000c0014t0009 | a0000c0014t0009g0000 | 1 | 418 | 0.0024 | -5853 | c.211 others(10): Show |
p.Ser others(5): Show |
PCDHB2 | ENSG00000112852.7 | transcript | ENST00000194155.7 | protein_coding | 1/1 | 2292/4089 | 2116/2397 | 706/798 | chr5 | TogoVar | ||
PCDHB3_chr5_141095473_141108827 | 141096905 | CTCGGTGC others(5846): Show |
C | start_lost others(1): Show |
HIGH | HG03579.hp1 | a0016 | a0016c0025 | a0016c0025t0017 | a0016c0025t0017g0000 | 1 | 424 | 0.0024 | -5853 | c.-37 others(10): Show |
p.Met others(11): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 1/1 | 1/2391 | 1/796 | chr5 | TogoVar | |||
SMG1_chr16_18799860_18931408 | 18821202 | TGAGATAT others(5845): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(129): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(13): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0030others(23): Show | a0001c0002t0002g0226a0001c0002t0002g0227a0001c0002t0002g0228others(129): Show | 132 | 300 | 0.4400 | -5852 | c.974 others(18): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 55/62 | chr16 | TogoVar | ||||||
CTXND1_chr15_80190481_80257213 | 80228699 | GGCTCACT others(5841): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0058 | a0001c0003t0008g0262a0001c0003t0058g0261 | 2 | 396 | 0.0051 | -5848 | c.-21 others(21): Show |
CTXND1 | ENSG00000259417.3 | transcript | ENST00000560778.3 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61230850 | CTCAACAA others(5837): Show |
C | exon_loss_variant others(5): Show |
HIGH | NA21309.hp1 | a0000 | a0000c0016 | a0000c0016t0005 | a0000c0016t0005g0058 | 1 | 304 | 0.0033 | -5844 | c.101 others(14): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
TMTC2_chr12_82681906_83139866 | 82844966 | ACCTGTAA others(5831): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0002c0002t0006 | a0001c0001t0017g0035a0002c0002t0006g0090 | 2 | 96 | 0.0208 | -5838 | c.84- others(16): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TSPAN13_chr7_16748755_16789536 | 16755037 | TTCCACAG others(5828): Show |
T | intron_variant | MODIFIER | NA18989.hp2 NA19058.hp1 NA19079.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0025a0001c0004t0002 | a0001c0003t0002g0112a0001c0003t0025g0113a0001c0004t0002g0111 | 3 | 440 | 0.0068 | -5835 | c.63+ others(15): Show |
TSPAN13 | ENSG00000106537.8 | transcript | ENST00000262067.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CIDEC_chr3_9861714_9885253 | 9879423 | TGGCCTCC others(5823): Show |
T | splice_donor_variant others(4): Show |
HIGH | NA18943.hp2 NA18973.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048a0001c0003t0005g0049 | 2 | 410 | 0.0049 | -5830 | c.-51 others(14): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122816728 | TTGTCAGG others(5815): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 126 | 0.0079 | -5822 | c.339 others(19): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243760123 | CATTTTGT others(5814): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 301 | 0.0033 | -5821 | c.47- others(17): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167188535 | ATAAGATT others(5808): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0046a0001c0001t0001g0053others(21): Show | 24 | 144 | 0.1667 | -5815 | c.189 others(19): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar |