| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DUSP11_chr2_73757213_73785103 | 73783350 | GATTCAAG others(1746): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02258.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0108 |
4 | 384 | 0.0104 | -1753 | c.-51 others(11): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 3248 | chr2 | TogoVar | |||||||
| MB21D2_chr3_192791815_192922856 | 192827118 | GATCTCCT others(1746): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0109 a0001c0001t0005g0174 a0001c0001t0005g0189 |
3 | 296 | 0.0101 | -1753 | c.212 others(19): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6622759 | GTAAGATG others(1745): Show |
G | splice_region_variant | LOW | HG02257.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
a0029a0031a0033others(2): Show | a0029c0042a0031c0039a0033c0058others(2): Show | a0029c0042t0006a0031c0039t0006a0033c0058t0006others(2): Show | a0029c0042t0006g0060 a0031c0039t0006g0049 a0033c0058t0006g0210 others(2): Show |
5 | 360 | 0.0139 | -1752 | c.*14 others(11): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 19/19 | chr4 | TogoVar | |||||||
| NDUFB4_chr3_120591336_120607507 | 120598353 | CATCTTGC others(1745): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 422 | 0.0024 | -1752 | c.180 others(17): Show |
NDUFB4 | ENSG00000065518.8 | transcript | ENST00000184266.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| TYMS_chr18_652653_678578 | 654174 | GCCTCAAA others(1745): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0328 a0001c0001t0013g0338 |
2 | 480 | 0.0042 | -1752 | c.-35 others(11): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3478 | chr18 | TogoVar | |||||||
| LINGO2_chr9_27932617_29218601 | 28553711 | TTGAAATG others(1744): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 62 | 0.0161 | -1751 | c.-31 others(21): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
| UPF3A_chr13_114276601_114310817 | 114292868 | TTCGAGAT others(1744): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0067 |
2 | 448 | 0.0045 | -1751 | c.846 others(17): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238179 | TACTCCCT others(1743): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 106 | 0.0094 | -1750 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158708056 | CCCAGGAA others(1741): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(75): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 others(71): Show |
78 | 376 | 0.2074 | -1748 | c.-51 others(11): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 3253 | chr7 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(1740): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 279 | 0.0036 | -1747 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| KLC1_chr14_103624211_103706544 | 103648156 | GGCCAGGA others(1739): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 366 | 0.0027 | -1746 | c.-1- others(15): Show |
KLC1 | ENSG00000126214.22 | transcript | ENST00000334553.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| TM4SF20_chr2_227357038_227384306 | 227368402 | GTGCAGTG others(1739): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0116 | 1 | 468 | 0.0021 | -1746 | c.249 others(16): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
| TOPBP1_chr3_133595238_133666941 | 133603659 | GTAAACAA others(1739): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 NA18954.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 |
3 | 338 | 0.0089 | -1746 | c.442 others(19): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 27/27 | chr3 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1288204 | TGTGTCTC others(1738): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 272 | 0.0037 | -1745 | c.*36 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4186 | chr1 | TogoVar | |||||||
| CFAP107_chr1_12741200_12768699 | 12745321 | CTTTCTCT others(1738): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02896.hp2 | a0006 | a0006c0009 | a0006c0009t0045 | a0006c0009t0045g0103 | 1 | 334 | 0.0030 | -1745 | c.-11 others(13): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
| BICRAL_chr6_42777052_42873556 | 42869821 | CGAGGCAG others(1737): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0052 others(19): Show |
22 | 268 | 0.0821 | -1744 | c.*43 others(11): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1266 | chr6 | TogoVar | |||||||
| ABCA13_chr7_48166458_48652497 | 48613512 | CTGTGTTA others(1735): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01516.hp1 others(1): Show |
a0001a0004a0010 | a0001c0010a0004c0009a0010c0043others(1): Show | a0001c0010t0002a0004c0009t0002a0010c0043t0002others(1): Show | a0001c0010t0002g0075 a0004c0009t0002g0151 a0010c0043t0002g0102 others(1): Show |
4 | 176 | 0.0227 | -1742 | c.147 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | chr7 | TogoVar | |||||||
| FRMD4B_chr3_69163782_69391088 | 69267775 | GGCATGCA others(1734): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03453.hp1 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0013a0004c0006t0007 | a0002c0002t0013g0040 a0004c0006t0007g0039 |
2 | 222 | 0.0090 | -1741 | c.501 others(19): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
| SAMHD1_chr20_36885229_36956708 | 36894399 | ATTTTTGT others(1734): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 a0001c0001t0005g0277 |
2 | 338 | 0.0059 | -1741 | c.174 others(19): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 15/15 | chr20 | TogoVar | |||||||
| TLDC2_chr20_36871138_36899235 | 36894399 | ATTTTTGT others(1734): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 2 | 382 | 0.0052 | -1741 | c.*15 others(11): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 165 | chr20 | TogoVar | |||||||
| CYP20A1_chr2_203234018_203311026 | 203263258 | GGATTACA others(1733): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0003 | a0003c0003 | a0003c0003t0146a0003c0003t0147 | a0003c0003t0146g0024 a0003c0003t0147g0025 |
2 | 332 | 0.0060 | -1740 | c.433 others(17): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| FAM151B_chr5_80483100_80547563 | 80544920 | CAAAATGT others(1733): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 354 | 0.0028 | -1740 | c.*30 others(11): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 2358 | chr5 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1404230 | CCTCATCG others(1732): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -1739 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| TTC28_chr22_27973014_28684840 | 28671374 | GCCTGTAA others(1732): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0064 | 1 | 196 | 0.0051 | -1739 | c.102 others(17): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392959 | CAGGTGGT others(1732): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG03491.hp1 HG03492.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0020a0001c0001t0095others(2): Show | a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0020g0214 others(3): Show |
6 | 340 | 0.0176 | -1739 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| TRAM2_chr6_52492408_52582060 | 52526846 | GGCATGAC others(1731): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0188 | 1 | 376 | 0.0027 | -1738 | c.184 others(17): Show |
TRAM2 | ENSG00000065308.5 | transcript | ENST00000182527.4 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| SCARB1_chr12_124771856_124868864 | 124791720 | GCTGAGGC others(1730): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 354 | 0.0028 | -1737 | c.120 others(19): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
| ZNF106_chr15_42407823_42496141 | 42460595 | CCACGCCT others(1730): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0029 | 1 | 262 | 0.0038 | -1737 | c.116 others(17): Show |
ZNF106 | ENSG00000103994.18 | transcript | ENST00000564754.7 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
| RTN4IP1_chr6_106565771_106634498 | 106597565 | AATCGCTG others(1729): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 394 | 0.0025 | -1736 | c.669 others(17): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1888850 | TTGTGAGG others(1728): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0020 | 1 | 347 | 0.0029 | -1735 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ITGA9_chr3_37447141_37828507 | 37756931 | AAAGAAAT others(1727): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG03516.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0031 | a0002c0002t0007g0039 a0002c0002t0007g0129 a0002c0002t0007g0130 others(1): Show |
4 | 166 | 0.0241 | -1734 | c.254 others(19): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1724): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 100 | 0.0100 | -1731 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1639631 | AGATAGGG others(1724): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 220 | 0.0045 | -1731 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1638694 | ACATGAGG others(1723): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 216 | 0.0046 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639498 | GTCCATCC others(1723): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 201 | 0.0050 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(1723): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0062 others(24): Show |
27 | 163 | 0.1656 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76305009 | CATTTTAG others(1722): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02723.hp2 others(9): Show |
a0003a0006a0015others(6): Show | a0003c0098a0006c0014a0006c0067others(8): Show | a0003c0098t0017a0006c0014t0048a0006c0067t0001others(8): Show | a0003c0098t0017g0042 a0006c0014t0048g0115 a0006c0067t0001g0058 others(9): Show |
12 | 164 | 0.0732 | -1729 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132303737 | ACACACCC others(1721): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02135.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 others(8): Show |
11 | 161 | 0.0683 | -1728 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
| NCF2_chr1_183550562_183595459 | 183580469 | AATTTCCA others(1721): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0255 | 1 | 404 | 0.0025 | -1728 | c.258 others(17): Show |
NCF2 | ENSG00000116701.16 | transcript | ENST00000367535.8 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943313 | CGTCTGCA others(1720): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0016a0001c0003t0016a0002c0004t0033 | a0001c0001t0016g0064 a0001c0003t0016g0066 a0002c0004t0033g0095 |
3 | 100 | 0.0300 | -1727 | c.*63 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2697 | chr20 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943366 | CGGCACCG others(1720): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0040 | 1 | 106 | 0.0094 | -1727 | c.*64 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2750 | chr20 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288264 | TCTGCTCC others(1720): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0014 | a0014c0021 | a0014c0021t0008 | a0014c0021t0008g0270 | 1 | 270 | 0.0037 | -1727 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZNF614_chr19_52008324_52033379 | 52024483 | GTGGGGAA others(1720): Show |
G | exon_loss_variant others(1): Show |
HIGH | NA19043.hp1 | a0009 | a0009c0013 | a0009c0013t0021 | a0009c0013t0021g0065 | 1 | 414 | 0.0024 | -1727 | c.-21 others(16): Show |
ZNF614 | ENSG00000142556.19 | transcript | ENST00000270649.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132821030 | TGTGCTGA others(1719): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0023 | a0023c0099 | a0023c0099t0002 | a0023c0099t0002g0017 | 1 | 244 | 0.0041 | -1726 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132233453 | TCCCTAGT others(1718): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0067 | 1 | 171 | 0.0058 | -1725 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0005a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show |
105 | 424 | 0.2476 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392908 | GAAGGCAG others(1717): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 |
a0001a0004 | a0001c0005a0004c0038 | a0001c0005t0090a0004c0038t0088 | a0001c0005t0090g0275 a0004c0038t0088g0126 |
2 | 331 | 0.0060 | -1724 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| RNFT2_chr12_116733315_116858631 | 116779928 | AGACAAGG others(1716): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0204 | 1 | 266 | 0.0038 | -1723 | c.882 others(16): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
| ZC3H6_chr2_112270597_112345059 | 112287837 | CGTGATCC others(1716): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02809.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0003a0009c0010t0003 | a0001c0001t0003g0036 a0001c0001t0003g0175 a0009c0010t0003g0176 |
4 | 286 | 0.0140 | -1723 | c.32+ others(17): Show |
ZC3H6 | ENSG00000188177.15 | transcript | ENST00000409871.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920125 | GAACCGAG others(1714): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 350 | 0.0029 | -1721 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar |