| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAP1_chr8_130047104_130448674 | 130049455 | GGGGGCAG others(56): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0272 | 2 | 308 | 0.0065 | -63 | c.*52 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2648 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049557 | TGGGGGCA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0165a0001c0001t0001g0201others(1): Show | 4 | 308 | 0.0130 | -63 | c.*51 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2546 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049867 | TGGGGGCA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0220others(3): Show | 6 | 308 | 0.0195 | -63 | c.*48 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2236 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049908 | TGGAGGGC others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03130.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0165a0001c0001t0001g0171others(1): Show | 4 | 308 | 0.0130 | -63 | c.*47 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2195 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049991 | TGGGGGGC others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 308 | 0.0033 | -63 | c.*46 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2112 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130050014 | GGGGGCAG others(56): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp2 HG06807.hp2 NA19091.hp2 |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0012a0001c0013t0001a0002c0002t0001 | a0001c0001t0012g0295a0001c0013t0001g0156a0002c0002t0001g0075 | 3 | 308 | 0.0097 | -63 | c.*46 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2089 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130050033 | TGGGGGCA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 308 | 0.0033 | -63 | c.*46 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2070 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130050095 | TGGGGGGC others(56): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0220others(4): Show | 7 | 308 | 0.0227 | -63 | c.*45 others(74): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2008 | chr8 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218544 | TTGTATGA others(56): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(81): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0019others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0015others(73): Show | 84 | 410 | 0.2049 | -63 | c.671 others(80): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176219512 | TATATATT others(56): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 410 | 0.0024 | -63 | c.670 others(80): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ASH2L_chr8_38100529_38145080 | 38126493 | TATACATG others(56): Show |
T | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0270 | 1 | 330 | 0.0030 | -63 | c.116 others(82): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ASMTL_chrX_1398139_1457909 | 1443684 | CCATCGTG others(56): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0002a0001c0008t0001g0032a0002c0003t0001g0091others(8): Show | 11 | 185 | 0.0595 | -63 | c.94- others(78): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112840363 | TTCCAGCC others(56): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02451.hp1 HG03688.hp1 others(2): Show |
a0001a0005a0011 | a0001c0022a0005c0018a0011c0041 | a0001c0022t0001a0005c0018t0001a0011c0041t0001 | a0001c0022t0001g0196a0001c0022t0001g0217a0005c0018t0001g0009others(2): Show | 5 | 254 | 0.0197 | -63 | c.170 others(82): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112845774 | GGTACTAA others(56): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01517.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0011a0002c0003others(2): Show | a0001c0005t0001a0001c0011t0046a0002c0003t0002others(5): Show | a0001c0005t0001g0086a0001c0011t0046g0011a0002c0003t0002g0073others(8): Show | 11 | 254 | 0.0433 | -63 | c.180 others(82): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP2B2_chr3_10319023_10510586 | 10445317 | GAAGAGAA others(56): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0006a0001c0003t0006a0001c0004t0001others(8): Show | a0001c0001t0006g0145a0001c0003t0006g0243a0001c0004t0001g0003others(8): Show | 11 | 290 | 0.0379 | -63 | c.199 others(80): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79172442 | TAGCCACC others(56): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 298 | 0.0034 | -63 | c.779 others(80): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| AVPI1_chr10_97672424_97692241 | 97678879 | GGGTGTGT others(56): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 446 | 0.0022 | -63 | c.287 others(78): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| BATF2_chr11_64982945_65001971 | 64983497 | TTATTTTA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 404 | 0.0025 | -63 | c.*55 others(74): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4447 | chr11 | TogoVar | ||||||
| BBS4_chr15_72681207_72743473 | 72725859 | ATCCCCCT others(56): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358a0001c0001t0001g0362a0001c0001t0001g0367others(5): Show | 8 | 398 | 0.0201 | -63 | c.587 others(80): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BCL11A_chr2_60452194_60558654 | 60507213 | AGGAAGGA others(56): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0042others(6): Show | a0001c0001t0001g0049a0001c0001t0003g0168a0001c0001t0042g0138others(6): Show | 9 | 262 | 0.0344 | -63 | c.386 others(82): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(56): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0003g0159a0001c0001t0009g0219a0001c0001t0016g0224others(2): Show | 5 | 316 | 0.0158 | -63 | c.-10 others(74): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43086386 | CAAAAACC others(56): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 276 | 0.0036 | -63 | c.418 others(82): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1441797 | ACCCCATT others(56): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0044a0001c0001t0045 | a0001c0001t0014g0039a0001c0001t0044g0016a0001c0001t0045g0040 | 3 | 360 | 0.0083 | -63 | c.414 others(78): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1452592 | GGATGCCT others(56): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0006 | a0006c0012 | a0006c0012t0037 | a0006c0012t0037g0293 | 1 | 360 | 0.0028 | -63 | c.154 others(82): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1452608 | CCCACCCA others(56): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 360 | 0.0028 | -63 | c.154 others(82): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BTBD2_chr19_1980448_2020714 | 2015845 | GAGGAGGG others(56): Show |
G | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0079 | 1 | 364 | 0.0028 | -63 | c.-20 others(72): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 132 | chr19 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113955563 | ATCTCGTG others(56): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0096 | 1 | 414 | 0.0024 | -63 | c.*11 others(74): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 1147 | chr13 | TogoVar | |||||
| C17orf67_chr17_56786913_56838920 | 56788469 | AAACATAT others(56): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 292 | 0.0034 | -63 | c.*38 others(74): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 3443 | chr17 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404413 | GGGGGGGA others(56): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0044 | 1 | 322 | 0.0031 | -63 | c.*26 others(74): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1031 | chr19 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404904 | GGACGGGG others(56): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG04199.hp1 NA21309.hp2 |
a0001a0009 | a0001c0001a0001c0002a0009c0019 | a0001c0001t0014a0001c0002t0003a0009c0019t0066 | a0001c0001t0014g0009a0001c0002t0003g0002a0009c0019t0066g0176 | 3 | 322 | 0.0093 | -63 | c.*21 others(74): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 540 | chr19 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531654 | ACAGGGCA others(56): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | -63 | c.-28 others(74): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2544 | chr8 | TogoVar | ||||||
| CA11_chr19_48632946_48651187 | 48650982 | GGGATTAC others(56): Show |
G | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 392 | 0.0026 | -63 | c.-54 others(74): Show |
CA11 | ENSG00000063180.9 | transcript | ENST00000084798.9 | protein_coding | 4796 | chr19 | TogoVar | ||||||
| CALB2_chr16_71353723_71395433 | 71381216 | TCATATTT others(56): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 426 | 0.0024 | -63 | c.343 others(80): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121301364 | CTTTTTTT others(56): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0221 | 1 | 330 | 0.0030 | -63 | c.-48 others(74): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4656 | chr12 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44773876 | GAAAACGC others(56): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 198 | 0.0051 | -63 | c.*17 others(74): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 1285 | chr2 | TogoVar | ||||||
| CAPNS1_chr19_36135066_36155353 | 36153269 | CTCGAACT others(56): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 480 | 0.0021 | -63 | c.*34 others(74): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2917 | chr19 | TogoVar | ||||||
| CAPZA2_chr7_116857587_116927049 | 116890522 | AAAAATAT others(56): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 354 | 0.0028 | -63 | c.103 others(80): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAPZA2_chr7_116857587_116927049 | 116890524 | AAATATAT others(56): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 354 | 0.0028 | -63 | c.103 others(80): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25450768 | CTCCCTCC others(56): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0021a0001c0003t0002a0001c0015t0002others(2): Show | a0001c0001t0021g0163a0001c0003t0002g0089a0001c0015t0002g0032others(2): Show | 5 | 186 | 0.0269 | -63 | c.614 others(77): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CASZ1_chr1_10631604_10801646 | 10662227 | AAACACAC others(56): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0008others(13): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(32): Show | a0001c0003t0001g0207a0001c0003t0002g0046a0001c0003t0002g0050others(61): Show | 64 | 236 | 0.2712 | -63 | c.506 others(80): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 5/20 | chr1 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88933252 | GCACGCCT others(56): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(145): Show | 148 | 284 | 0.5211 | -63 | c.152 others(82): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88979335 | CTGGGGTT others(56): Show |
C | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 284 | 0.0035 | -63 | c.-25 others(74): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2129 | chr16 | TogoVar | ||||||
| CCDC102B_chr18_68793080_69060189 | 68956500 | ATATAATA others(56): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0157 | 1 | 216 | 0.0046 | -63 | c.126 others(84): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CCDC40_chr17_80031642_80105613 | 80090386 | CAGCACGT others(56): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp2 others(45): Show |
a0001a0017a0018others(1): Show | a0001c0003a0001c0011a0001c0031others(5): Show | a0001c0003t0001a0001c0003t0008a0001c0011t0001others(6): Show | a0001c0003t0001g0002a0001c0003t0001g0024a0001c0003t0001g0128others(45): Show | 48 | 378 | 0.1270 | -63 | c.283 others(80): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CD69_chr12_9747486_9765901 | 9762346 | TTTTTCCA others(56): Show |
T | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0034 | 1 | 450 | 0.0022 | -63 | c.-15 others(74): Show |
CD69 | ENSG00000110848.8 | transcript | ENST00000228434.7 | protein_coding | 1446 | chr12 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61783659 | AGGCCCTC others(56): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 106 | 0.0094 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61783763 | TAGTTCCT others(56): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG01978.hp1 others(3): Show |
a0001a0002a0005 | a0001c0011a0002c0004a0002c0005others(2): Show | a0001c0011t0008a0002c0004t0027a0002c0005t0007others(3): Show | a0001c0011t0008g0101a0002c0004t0027g0098a0002c0005t0007g0097others(3): Show | 6 | 106 | 0.0566 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784084 | CGGGACAG others(56): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG02922.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0009a0001c0001t0011a0001c0006t0049others(3): Show | a0001c0001t0009g0019a0001c0001t0011g0005a0001c0006t0049g0071others(3): Show | 6 | 106 | 0.0566 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784110 | GTCCTGTG others(56): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0067 | 1 | 106 | 0.0094 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784300 | TTGTGCCC others(56): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG02040.hp2 others(1): Show |
a0001a0002a0005 | a0001c0011a0002c0005a0002c0024others(1): Show | a0001c0011t0008a0002c0005t0007a0002c0024t0047others(1): Show | a0001c0011t0008g0101a0002c0005t0007g0097a0002c0024t0047g0051others(1): Show | 4 | 106 | 0.0377 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |