| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM120B_chr12_121707752_121787068 | 121747613 | G | GCACTGGG others(665): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0155 | 1 | 314 | 0.0032 | 672 | c.189 others(687): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(31): Show | a0001c0001t0001g0016a0001c0001t0001g0065a0001c0001t0001g0154others(49): Show | 53 | 260 | 0.2039 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02717.hp2 others(8): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0013a0002c0003t0029a0002c0003t0120others(4): Show | a0002c0003t0013g0161a0002c0003t0013g0164a0002c0003t0029g0018others(7): Show | 11 | 260 | 0.0423 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0019 | 1 | 260 | 0.0039 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01167.hp2 others(40): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(31): Show | a0001c0001t0003g0055a0001c0001t0003g0158a0001c0001t0003g0225others(40): Show | 43 | 260 | 0.1654 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0124 | 1 | 260 | 0.0039 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0096a0001c0001t0097 | a0001c0001t0003g0145a0001c0001t0003g0174a0001c0001t0096g0175others(1): Show | 4 | 260 | 0.0154 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373612 | A | AATGGCTC others(665): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 394 | 0.0025 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2920 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 NA18994.hp2 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0157a0001c0002t0002g0178 | 3 | 394 | 0.0076 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0185 | 6 | 394 | 0.0152 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0187a0001c0001t0003g0188a0001c0001t0003g0189others(4): Show | 7 | 394 | 0.0178 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 394 | 0.0025 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0050a0001c0010t0001g0050 | 2 | 394 | 0.0051 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0134a0001c0001t0008g0133 | 2 | 394 | 0.0051 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 394 | 0.0025 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0096a0001c0002t0001g0073 | 3 | 394 | 0.0076 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(86): Show | 146 | 394 | 0.3706 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 394 | 0.0025 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03654.hp1 HG06807.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0131others(1): Show | 6 | 394 | 0.0152 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0002 | a0001c0001t0001g0094a0001c0002t0002g0005a0002c0003t0002g0048others(2): Show | 5 | 394 | 0.0127 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0179 | 3 | 394 | 0.0076 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135a0001c0001t0002g0183 | 2 | 394 | 0.0051 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(665): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 114 | 0.0088 | 672 | c.-25 others(691): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TOLLIP_chr11_1269371_1314632 | 1287465 | G | GCCTCCCC others(665): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 348 | 0.0029 | 672 | c.519 others(689): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
| TOLLIP_chr11_1269371_1314632 | 1287577 | C | CCCTCCCC others(665): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 348 | 0.0029 | 672 | c.519 others(689): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507402 | C | CATACGTA others(665): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0238a0001c0001t0019g0241 | 2 | 388 | 0.0052 | 672 | c.-23 others(689): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 338 | 0.0030 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0271 | 2 | 338 | 0.0059 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 338 | 0.0030 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(665): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0036 | a0002c0036t0022 | a0002c0036t0022g0104 | 1 | 204 | 0.0049 | 672 | c.213 others(691): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827600 | G | GCTACCGC others(665): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0001 | 1 | 200 | 0.0050 | 672 | c.449 others(689): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133828042 | C | CGCCCACT others(665): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0192 | 1 | 200 | 0.0050 | 672 | c.449 others(689): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7844449 | A | AGAGGTGG others(665): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03453.hp2 |
a0012a0071 | a0012c0028a0071c0067 | a0012c0028t0002a0071c0067t0016 | a0012c0028t0002g0002a0071c0067t0016g0004 | 2 | 341 | 0.0059 | 672 | c.*43 others(681): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 307 | chrX | TogoVar | ||||||
| VIPR2_chr7_159023175_159149867 | 159129212 | T | TGGGGACA others(665): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0295a0001c0001t0001g0296a0001c0001t0001g0297others(1): Show | 4 | 336 | 0.0119 | 672 | c.151 others(691): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
| VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(665): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 408 | 0.0025 | 672 | c.53+ others(687): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
| ABCA7_chr19_1035107_1070572 | 1049720 | G | GCCCCCCA others(666): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0012 | 1 | 30 | 0.0333 | 673 | c.255 others(690): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(666): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04199.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0235a0001c0003t0001g0177 | 2 | 249 | 0.0080 | 673 | c.49- others(688): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| ADAMTS16_chr5_5135330_5325304 | 5305449 | T | TCCCACAC others(666): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0195 | 1 | 332 | 0.0030 | 673 | c.318 others(692): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ADGRA1_chr10_133082924_133136675 | 133111297 | C | CGCCACGG others(666): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0254 | 1 | 368 | 0.0027 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(666): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 368 | 0.0027 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111930 | C | CACAGACA others(666): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0004 | a0001c0004t0047 | a0001c0004t0047g0304 | 1 | 368 | 0.0027 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2128514 | A | AGCTCCGA others(666): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 406 | 0.0025 | 673 | c.806 others(688): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(666): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094a0001c0002t0001g0113 | 2 | 246 | 0.0081 | 673 | c.298 others(690): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(666): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 246 | 0.0041 | 673 | c.298 others(690): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687120 | C | CCCCGTGA others(666): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086a0001c0002t0001g0087 | 2 | 246 | 0.0081 | 673 | c.-15 others(684): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1275 | chr8 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160652889 | T | TTATACAA others(666): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0015 | a0015c0024 | a0015c0024t0008 | a0015c0024t0008g0178 | 1 | 236 | 0.0042 | 673 | c.676 others(690): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835408 | G | GCCACCCC others(666): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 391 | 0.0026 | 673 | c.*35 others(684): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3391 | chr19 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(666): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0243 | 1 | 360 | 0.0028 | 673 | c.92- others(690): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTGTCCAT others(666): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03195.hp1 HG03516.hp1 |
a0003a0006 | a0003c0003a0006c0010 | a0003c0003t0001a0006c0010t0001 | a0003c0003t0001g0029a0006c0010t0001g0055 | 3 | 400 | 0.0075 | 673 | c.-99 others(688): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(666): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01952.hp2 NA18960.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 4 | 398 | 0.0101 | 673 | c.-22 others(684): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar |