| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SPAAR_chr9_35904490_35916686 | 35914071 | T | TGTGTGTG others(717): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 724 | c.*33 others(735): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2386 | chr9 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628736 | A | AGGGGGTG others(717): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0182 | 1 | 352 | 0.0028 | 724 | c.299 others(741): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628736 | A | AGGGGTGA others(717): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0020 | a0020c0034 | a0020c0034t0010 | a0020c0034t0010g0146 | 1 | 352 | 0.0028 | 724 | c.299 others(741): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273665 | A | ACATCAGA others(717): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 392 | 0.0026 | 724 | c.228 others(743): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0137a0001c0004t0002g0138a0001c0004t0002g0172 | 3 | 352 | 0.0085 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(3): Show | a0001c0001t0001g0018a0001c0001t0005g0014a0001c0001t0005g0038others(12): Show | 22 | 352 | 0.0625 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 NA19030.hp1 NA20300.hp1 |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0003a0005c0015t0001 | a0001c0001t0003g0148a0001c0001t0003g0180a0005c0015t0001g0117 | 3 | 352 | 0.0085 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 352 | 0.0028 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0146 | 1 | 352 | 0.0028 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0020a0002c0002t0037 | a0002c0002t0005g0167a0002c0002t0005g0168a0002c0002t0005g0170others(11): Show | 15 | 344 | 0.0436 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0003 | 2 | 344 | 0.0058 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0166 | 1 | 344 | 0.0029 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507099 | G | GTGTATAT others(717): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 388 | 0.0026 | 724 | c.-23 others(741): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(717): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 167 | 0.0060 | 724 | c.*53 others(735): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467332 | T | TGTGTGGG others(717): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0072 | a0072c0084 | a0072c0084t0003 | a0072c0084t0003g0011 | 1 | 271 | 0.0037 | 724 | c.*94 others(733): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 823 | chrX | TogoVar | ||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(717): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 NA18522.hp1 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0003 | a0002c0004t0001g0030a0002c0004t0003g0031 | 3 | 274 | 0.0110 | 724 | c.*51 others(735): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(717): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02738.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0017a0002c0004t0001g0028 | 3 | 274 | 0.0110 | 724 | c.*51 others(735): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
| VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(717): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 408 | 0.0025 | 724 | c.53+ others(739): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(717): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 246 | 0.0041 | 724 | c.-10 others(741): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(717): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 302 | 0.0033 | 724 | c.-1- others(741): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(717): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 322 | 0.0031 | 724 | c.4-1 others(737): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(718): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0072 | 1 | 242 | 0.0041 | 725 | c.927 others(742): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(718): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014a0001c0002t0002g0016a0001c0002t0002g0018others(1): Show | 4 | 242 | 0.0165 | 725 | c.927 others(742): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(718): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 242 | 0.0041 | 725 | c.927 others(742): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GTAGGGTT others(718): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0074 | 1 | 242 | 0.0041 | 725 | c.927 others(742): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(718): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0088a0001c0002t0001g0106others(3): Show | 6 | 246 | 0.0244 | 725 | c.298 others(742): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130428423 | A | ATCATCAT others(718): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03139.hp1 |
a0001a0004 | a0001c0009a0004c0012 | a0001c0009t0001a0004c0012t0027 | a0001c0009t0001g0232a0004c0012t0027g0233 | 2 | 308 | 0.0065 | 725 | c.-28 others(744): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(718): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 298 | 0.0034 | 725 | c.955 others(742): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(718): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 298 | 0.0034 | 725 | c.955 others(742): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585260 | G | GTGTTGAG others(718): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0332a0001c0001t0018g0333 | 2 | 354 | 0.0057 | 725 | c.-22 others(742): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1117305 | A | ACAGTTCT others(718): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 326 | 0.0031 | 725 | c.129 others(742): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(718): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 9 | 398 | 0.0226 | 725 | c.-22 others(736): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(718): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0316 | 1 | 338 | 0.0030 | 725 | c.300 others(742): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(718): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0109 | a0002c0109t0001 | a0002c0109t0001g0080 | 1 | 338 | 0.0030 | 725 | c.300 others(742): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(718): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0064a0001c0001t0001g0065others(9): Show | 12 | 242 | 0.0496 | 725 | c.266 others(742): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(718): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 168 | 0.0060 | 725 | c.-26 others(734): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1329748 | C | CTGGTGGA others(718): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0127 | 2 | 370 | 0.0054 | 725 | c.108 others(742): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
| CNTN6_chr3_1088024_1409217 | 1245281 | A | ATATATAT others(718): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 232 | 0.0043 | 725 | c.358 others(744): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45500879 | T | TGTGTTGG others(718): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0068 | 1 | 292 | 0.0034 | 725 | c.268 others(744): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(718): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 94 | 0.0106 | 725 | c.-2+ others(742): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(718): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 94 | 0.0106 | 725 | c.-2+ others(742): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(718): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0148a0001c0001t0002g0007a0001c0001t0002g0129others(34): Show | 38 | 376 | 0.1011 | 725 | c.*26 others(736): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | ||||||
| DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(718): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0051others(1): Show | a0001c0001t0002g0130a0001c0001t0002g0150a0001c0001t0016g0249others(2): Show | 5 | 376 | 0.0133 | 725 | c.*26 others(736): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(718): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0093 | a0093c0181 | a0093c0181t0001 | a0093c0181t0001g0234 | 1 | 252 | 0.0040 | 725 | c.118 others(744): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(718): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0008 | a0008c0129 | a0008c0129t0001 | a0008c0129t0001g0162 | 1 | 252 | 0.0040 | 725 | c.118 others(744): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(718): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0225 | 1 | 252 | 0.0040 | 725 | c.118 others(744): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| ELP4_chr11_31504767_31795324 | 31581473 | T | TAAAAATA others(718): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 270 | 0.0037 | 725 | c.382 others(744): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27998959 | A | ATATATAT others(718): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 292 | 0.0034 | 725 | c.*50 others(736): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4314 | chr13 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586498 | G | GCGGGGGG others(718): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 308 | 0.0033 | 725 | c.157 others(742): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GTPBP6_chrX_299759_323796 | 321891 | C | CAAAAAAA others(718): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 155 | 0.0065 | 725 | c.-31 others(736): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3096 | chrX | TogoVar |