| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DPEP1_chr16_89608642_89643433 | 89635050 | C | CCCTTTCC others(815): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 231 | 0.0043 | 822 | c.105 others(837): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399226 | C | CCACCGCC others(815): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 307 | 0.0033 | 822 | c.-25 others(839): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(815): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 248 | 0.0040 | 822 | c.-25 others(839): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(815): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 198 | 0.0051 | 822 | c.804 others(839): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(815): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 198 | 0.0051 | 822 | c.804 others(839): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(815): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 149 | 0.0067 | 822 | c.804 others(839): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(815): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0189 | 1 | 305 | 0.0033 | 822 | c.-27 others(833): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(815): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0221 | 1 | 295 | 0.0034 | 822 | c.-26 others(833): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132719626 | A | AGCTGTCT others(815): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0012a0001c0004t0021 | a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 others(3): Show |
6 | 199 | 0.0302 | 822 | c.648 others(839): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| IQGAP3_chr1_156520405_156577565 | 156557466 | A | ACCCCGTC others(815): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03486.hp1 NA18906.hp1 |
a0004 | a0004c0005 | a0004c0005t0013 | a0004c0005t0013g0011 a0004c0005t0013g0036 |
3 | 338 | 0.0089 | 822 | c.113 others(839): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 11/37 | chr1 | TogoVar | |||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(815): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0040 | 1 | 162 | 0.0062 | 822 | c.178 others(839): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(815): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 822 | c.-27 others(833): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(815): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0278 a0001c0003t0007g0294 |
2 | 167 | 0.0120 | 822 | c.*66 others(833): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471447 | T | TTATATAT others(815): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 231 | 0.0043 | 822 | c.125 others(839): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(815): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 170 | 0.0059 | 822 | c.-30 others(833): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
| LSS_chr21_46183446_46233774 | 46184511 | C | CCAACCCA others(815): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 111 | 0.0090 | 822 | c.*65 others(833): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3934 | chr21 | TogoVar | |||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(815): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0084 | a0084c0109 | a0084c0109t0011 | a0084c0109t0011g0230 | 1 | 83 | 0.0120 | 822 | c.377 others(839): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(815): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 174 | 0.0115 | 822 | c.641 others(837): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(815): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 173 | 0.0058 | 822 | c.641 others(837): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(815): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0120 | 1 | 8 | 0.1250 | 822 | c.250 others(837): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241807814 | T | TCCCTCCC others(815): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 287 | 0.0035 | 822 | c.-14 others(833): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1378 | chr2 | TogoVar | |||||||
| NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(815): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp2 NA19030.hp1 |
a0001a0017 | a0001c0004a0017c0019 | a0001c0004t0001a0017c0019t0001 | a0001c0004t0001g0182 a0001c0004t0001g0183 a0017c0019t0001g0176 |
3 | 6 | 0.5000 | 822 | c.279 others(837): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 949109 | G | GCCTCCTC others(815): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 162 | 0.0062 | 822 | c.360 others(841): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(815): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0137 | 1 | 70 | 0.0143 | 822 | c.120 others(841): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(815): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 154 | 0.0065 | 822 | c.137 others(839): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| SLC22A1_chr6_160116815_160163718 | 160125720 | A | AGGATGTG others(815): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 317 | 0.0032 | 822 | c.411 others(839): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SLC22A1_chr6_160116815_160163718 | 160125720 | A | AGGATGTG others(815): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18941.hp1 NA18960.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0229 a0001c0001t0001g0238 others(4): Show |
8 | 324 | 0.0247 | 822 | c.411 others(839): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(815): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 28 | 0.0357 | 822 | c.-50 others(833): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
| SPATC1L_chr21_46156160_46189459 | 46184511 | C | CCAACCCA others(815): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 92 | 0.0109 | 822 | c.-11 others(833): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 53 | chr21 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01433.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 a0001c0003t0005g0043 a0001c0003t0005g0044 |
5 | 101 | 0.0495 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0004g0073 a0001c0001t0007g0046 a0001c0001t0007g0053 others(12): Show |
16 | 112 | 0.1429 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010 | a0001c0001t0003g0059 a0001c0001t0007g0054 a0001c0001t0007g0055 others(4): Show |
7 | 103 | 0.0680 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01168.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0037a0001c0001t0084others(9): Show | a0001c0001t0012g0052 a0001c0001t0037g0045 a0001c0001t0084g0047 others(17): Show |
24 | 120 | 0.2000 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0240 | 1 | 97 | 0.0103 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0175 | 1 | 97 | 0.0103 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0027 others(124): Show |
144 | 240 | 0.6000 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 | 1 | 97 | 0.0103 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01069.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(2): Show | a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0013g0280 others(4): Show |
7 | 103 | 0.0680 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19063.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0056 | a0001c0001t0006g0160 a0001c0006t0056g0349 |
2 | 98 | 0.0204 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0023 a0001c0001t0002g0205 a0001c0001t0002g0214 others(67): Show |
78 | 174 | 0.4483 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02132.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0041others(6): Show | a0001c0001t0004g0187 a0001c0001t0010g0179 a0001c0001t0041g0189 others(12): Show |
16 | 112 | 0.1429 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20129.hp2 |
a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0020 | 2 | 98 | 0.0204 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0068 | a0001c0001t0002g0277 a0001c0001t0002g0345 a0001c0001t0068g0276 |
3 | 99 | 0.0303 | 822 | c.-5+ others(837): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142272646 | A | ACACCTTC others(815): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00639.hp1 others(55): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0002c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0044 others(55): Show |
58 | 197 | 0.2944 | 822 | c.144 others(841): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142272646 | A | ACACCTTC others(815): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 140 | 0.0071 | 822 | c.144 others(841): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238871032 | C | CACACACC others(815): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 249 | 0.0040 | 822 | c.*35 others(841): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(815): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0266 | 1 | 74 | 0.0135 | 822 | c.218 others(839): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(815): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 100 | 0.0100 | 822 | c.-10 others(839): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
| ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0006 | a0002c0006t0039 | a0002c0006t0039g0008 | 1 | 201 | 0.0050 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
| ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02027.hp2 others(25): Show |
a0001a0003a0004others(8): Show | a0001c0004a0001c0015a0003c0007others(11): Show | a0001c0004t0011a0001c0015t0002a0001c0015t0011others(15): Show | a0001c0004t0011g0165 a0001c0015t0002g0034 a0001c0015t0011g0005 others(24): Show |
28 | 228 | 0.1228 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar |