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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA31C2_chr9_88124305_88143475 | 88139785 | G | GAAAGTTA others(3463): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0231 | 1 | 446 | 0.0022 | 3470 | c.-13 others(3481): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1311 | chr9 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36392484 | T | TCCTACTT others(3464): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 408 | 0.0025 | 3471 | c.18+ others(3486): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3464): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 424 | 0.0024 | 3471 | c.*49 others(3482): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185088 | T | TGCCCCTT others(3464): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0082 | a0082c0030 | a0082c0030t0001 | a0082c0030t0001g0021 | 1 | 174 | 0.0058 | 3471 | c.193 others(3490): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458462 | C | CCACAGGG others(3464): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0085 | 1 | 295 | 0.0034 | 3471 | c.715 others(3488): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87913342 | C | TGGTGAAA others(3464): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0029 | a0029c0059 | a0029c0059t0001 | a0029c0059t0001g0012 | 1 | 388 | 0.0026 | 3471 | c.-46 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4620 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916252 | A | AAAAAAAA others(3464): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0003 | 1 | 388 | 0.0026 | 3471 | c.-17 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1709 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916762 | C | TCAAGGCG others(3464): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0003 | 1 | 388 | 0.0026 | 3471 | c.-12 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1200 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917425 | A | AAAAAAAA others(3464): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | 3471 | c.-56 others(3480): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 536 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88140237 | G | GTTTTCTT others(3464): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 446 | 0.0022 | 3471 | c.-17 others(3482): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1763 | chr9 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377417 | C | CTCTGTGC others(3464): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0017 | a0017c0031 | a0017c0031t0007 | a0017c0031t0007g0316 | 1 | 370 | 0.0027 | 3471 | c.-14 others(3482): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771926 | A | AGGGAGGG others(3464): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0118 | 1 | 272 | 0.0037 | 3471 | c.389 others(3490): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36392484 | T | TCCTACTT others(3465): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0218 | 1 | 408 | 0.0025 | 3472 | c.18+ others(3487): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANLN_chr7_36384862_36458791 | 36392484 | T | TCCTACTT others(3465): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 408 | 0.0025 | 3472 | c.18+ others(3487): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3465): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 40 | 0.0250 | 3472 | c.*14 others(3483): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87913731 | A | CGGAGATC others(3465): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0035 | a0035c0057 | a0035c0057t0001 | a0035c0057t0001g0001 | 1 | 388 | 0.0026 | 3472 | c.-42 others(3483): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4231 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917200 | C | CGGAGATC others(3465): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 388 | 0.0026 | 3472 | c.-79 others(3481): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 761 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917200 | C | CGGAGATC others(3465): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0008 | 1 | 388 | 0.0026 | 3472 | c.-79 others(3481): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 761 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917200 | C | CGGAGATC others(3465): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0001 | 1 | 388 | 0.0026 | 3472 | c.-79 others(3481): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 761 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87918769 | T | CGCGTGTG others(3465): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0019 | 1 | 388 | 0.0026 | 3472 | c.190 others(3487): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3466): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 158 | 0.0063 | 3473 | c.284 others(3492): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916996 | C | CAAAAAAA others(3466): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | 3473 | c.-99 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 965 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916996 | C | CAAAAAAA others(3466): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0007 | 1 | 388 | 0.0026 | 3473 | c.-99 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 965 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917200 | C | CGGAGATC others(3466): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 388 | 0.0026 | 3473 | c.-79 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 761 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917425 | A | AAAAAAAA others(3466): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 388 | 0.0026 | 3473 | c.-56 others(3482): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 536 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87918138 | C | CGTTGTGA others(3466): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0013 | a0013c0048 | a0013c0048t0001 | a0013c0048t0001g0001 | 1 | 388 | 0.0026 | 3473 | c.172 others(3480): Show |
p.Ser others(4): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/4 | 202/3779 | 173/3567 | 58/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
SPATA31C1_chr9_87912962_87928657 | 87918138 | C | CGTTGTGA others(3466): Show |
frameshift_variant others(1): Show |
HIGH | HG03540.hp1 | a0013 | a0013c0049 | a0013c0049t0001 | a0013c0049t0001g0001 | 1 | 388 | 0.0026 | 3473 | c.172 others(3480): Show |
p.Ser others(4): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/4 | 202/3779 | 173/3567 | 58/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
SPATA31C1_chr9_87912962_87928657 | 87918894 | C | CCTGAGTA others(3466): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0034 | 1 | 388 | 0.0026 | 3473 | c.190 others(3488): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87918894 | C | CCTGAGTA others(3466): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0035 | 1 | 388 | 0.0026 | 3473 | c.190 others(3488): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87918894 | C | CCTGAGTA others(3466): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0036 | 1 | 388 | 0.0026 | 3473 | c.190 others(3488): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87918894 | C | CCTGAGTA others(3466): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0037 | 1 | 388 | 0.0026 | 3473 | c.190 others(3488): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87918894 | C | CCTGAGTA others(3466): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0048 | a0048c0044 | a0048c0044t0001 | a0048c0044t0001g0038 | 1 | 388 | 0.0026 | 3473 | c.190 others(3488): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137355628 | T | TGGAGGAA others(3467): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0004 | 1 | 82 | 0.0122 | 3474 | c.757 others(3489): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896615 | G | GGGGGTGT others(3467): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 37 | 0.0270 | 3474 | c.161 others(3489): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917050 | A | AATTACAT others(3467): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | 3474 | c.-94 others(3483): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 911 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917847 | C | CCTCCCCC others(3467): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0005 | 1 | 388 | 0.0026 | 3474 | c.-14 others(3483): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 114 | chr9 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3467): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 356 | 0.0028 | 3474 | c.114 others(3491): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79972946 | G | GGCGTCCG others(3468): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0063a0002c0002t0012g0075 | 2 | 268 | 0.0075 | 3475 | c.142 others(3494): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79972946 | G | GGCGTCCG others(3468): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0025 | a0002c0002t0004g0077a0002c0002t0025g0237 | 2 | 268 | 0.0075 | 3475 | c.142 others(3494): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTAGT others(3468): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0138 | 1 | 298 | 0.0034 | 3475 | c.126 others(3492): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896615 | G | GGGGGTGT others(3468): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 37 | 0.0270 | 3475 | c.161 others(3490): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3468): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 323 | 0.0031 | 3475 | c.-21 others(3486): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3468): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 323 | 0.0031 | 3475 | c.-21 others(3486): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325107 | T | TCTTCCCT others(3468): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 80 | 0.0125 | 3475 | c.125 others(3492): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3468): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0123 | 1 | 216 | 0.0046 | 3475 | c.-51 others(3494): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87916996 | C | CAAAAAAA others(3468): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0032 | a0032c0054 | a0032c0054t0001 | a0032c0054t0001g0001 | 1 | 388 | 0.0026 | 3475 | c.-99 others(3484): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 965 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916996 | C | CAAAAAAA others(3468): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 388 | 0.0026 | 3475 | c.-99 others(3484): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 965 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87917050 | A | AATTACAT others(3468): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 388 | 0.0026 | 3475 | c.-94 others(3484): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 911 | chr9 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771926 | A | AGGGAGGG others(3468): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0115 | 1 | 272 | 0.0037 | 3475 | c.389 others(3494): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(3469): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0337 | 1 | 340 | 0.0029 | 3476 | c.227 others(3493): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |