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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(442): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 384 | 0.0026 | 449 | c.160 others(466): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO1B_chr2_191240404_191430386 | 191398197 | T | TGATCCCC others(442): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0023 a0001c0003t0008g0024 |
2 | 170 | 0.0118 | 449 | c.229 others(468): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191398221 | T | TGGGGCGG others(442): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18994.hp1 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0001a0001c0012t0001 | a0001c0004t0001g0151 a0001c0012t0001g0026 |
2 | 170 | 0.0118 | 449 | c.229 others(468): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191398248 | A | ATCCCCCC others(442): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0163 | 1 | 170 | 0.0059 | 449 | c.229 others(468): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2031896 | A | ATATACAC others(442): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0066 | 1 | 104 | 0.0096 | 449 | c.-15 others(470): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(442): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0059 | 1 | 362 | 0.0028 | 449 | c.-75 others(468): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(442): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 362 | 0.0028 | 449 | c.-75 others(468): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(442): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 424 | 0.0024 | 449 | c.*26 others(460): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(442): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 449 | c.*26 others(460): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(442): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 449 | c.*26 others(460): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25562188 | G | GCCCGGCC others(442): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 310 | 0.0032 | 449 | c.-12 others(468): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300865 | G | GGGGGAGG others(442): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0131 | 1 | 344 | 0.0029 | 449 | c.154 others(466): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCGT others(442): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0142 | 1 | 326 | 0.0031 | 449 | c.433 others(466): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949240 | G | GCTGCCTC others(442): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 242 | 0.0041 | 449 | c.360 others(468): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(442): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 439 | 0.0023 | 449 | c.-16 others(460): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(442): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG03239.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0200 a0001c0001t0001g0206 others(2): Show |
5 | 439 | 0.0114 | 449 | c.-16 others(460): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(442): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 439 | 0.0023 | 449 | c.-16 others(460): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3197778 | G | GGAGGGAG others(442): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 328 | 0.0031 | 449 | c.-12 others(466): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3686075 | G | GCACAGCG others(442): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 362 | 0.0028 | 449 | c.981 others(466): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168738666 | G | GGTGATCC others(442): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0002t0010a0001c0004t0015others(1): Show | a0001c0001t0005g0091 a0001c0002t0010g0093 a0001c0004t0015g0011 others(1): Show |
4 | 156 | 0.0256 | 449 | c.196 others(470): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168738666 | G | GGTGATCC others(442): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0003 | a0001c0001t0011g0102 a0001c0002t0003g0022 |
2 | 156 | 0.0128 | 449 | c.196 others(470): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168738666 | G | GGTGATCC others(442): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 156 | 0.0064 | 449 | c.196 others(470): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(442): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0217 | 1 | 408 | 0.0025 | 449 | c.-10 others(466): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(442): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0094 | 1 | 408 | 0.0025 | 449 | c.-10 others(466): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(442): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0103 | 1 | 408 | 0.0025 | 449 | c.-10 others(466): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(442): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0153 | 1 | 408 | 0.0025 | 449 | c.-10 others(466): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGG others(442): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | 449 | c.*53 others(460): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401552 | G | GCCCGCTC others(442): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 216 | 0.0046 | 449 | c.173 others(466): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160945046 | A | ATAACTAT others(442): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 206 | 0.0049 | 449 | c.400 others(468): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420453 | T | TTCTTTCT others(442): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 216 | 0.0046 | 449 | c.-51 others(466): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348444 | G | GAAAAGAA others(442): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 276 | 0.0036 | 449 | c.132 others(466): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934241 | G | GGCTGCGT others(442): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 434 | 0.0023 | 449 | c.843 others(466): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 118071064 | G | GTATATAT others(442): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0145 a0001c0001t0030g0131 |
2 | 182 | 0.0110 | 449 | c.174 others(468): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(442): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0322 | 1 | 346 | 0.0029 | 449 | c.-70 others(466): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(442): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 251 | 0.0040 | 449 | c.*34 others(458): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(442): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0010 | a0001c0001t0033g0181 a0001c0002t0010g0034 |
2 | 276 | 0.0073 | 449 | c.-18 others(468): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(442): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0073 | a0001c0003t0073g0085 | 1 | 276 | 0.0036 | 449 | c.-18 others(468): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628084 | C | CAGGGGAT others(442): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0256 | 1 | 352 | 0.0028 | 449 | c.299 others(464): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628937 | C | CGGGGTGG others(442): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 352 | 0.0028 | 449 | c.299 others(466): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273210 | G | GCCATCCA others(442): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0379 a0001c0007t0001g0380 |
2 | 392 | 0.0051 | 449 | c.228 others(466): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273309 | C | CACGACCG others(442): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 392 | 0.0026 | 449 | c.228 others(468): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273451 | C | CACAACCG others(442): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0140 | 1 | 392 | 0.0026 | 449 | c.228 others(468): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930772 | A | AGGGGGTT others(442): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 466 | 0.0022 | 449 | c.*48 others(460): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4597 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507324 | C | CATACGTA others(442): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 388 | 0.0026 | 449 | c.-23 others(466): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(442): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0048 a0001c0001t0003g0005 a0001c0001t0003g0015 others(1): Show |
7 | 388 | 0.0180 | 449 | c.-23 others(466): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
USP37_chr2_218445251_218573351 | 218557668 | G | GCTGTAAT others(442): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA18612.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0015 | a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 others(13): Show |
16 | 282 | 0.0567 | 449 | c.156 others(464): Show |
USP37 | ENSG00000135913.11 | transcript | ENST00000258399.8 | protein_coding | 4/25 | chr2 | TogoVar | |||||||
VAT1L_chr16_77783564_77985107 | 77815892 | C | CGGGAGGT others(442): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 342 | 0.0029 | 449 | c.234 others(464): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VAT1L_chr16_77783564_77985107 | 77815892 | C | CGGGAGGT others(442): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03471.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004a0001c0002t0025 | a0001c0001t0006g0279 a0001c0002t0004g0276 a0001c0002t0004g0277 others(1): Show |
4 | 342 | 0.0117 | 449 | c.234 others(464): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(442): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02135.hp1 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0019a0006c0006t0008 | a0003c0003t0019g0032 a0006c0006t0008g0037 |
2 | 246 | 0.0081 | 449 | c.53- others(462): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(442): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0025 | a0025c0021 | a0025c0021t0020 | a0025c0021t0020g0233 | 1 | 246 | 0.0041 | 449 | c.53- others(462): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |