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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1237542 | CTGCCTCC others(88): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0082 | 1 | 106 | 0.0094 | -95 | c.136 others(114): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238842 | TTACTCCC others(88): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0015 | 1 | 106 | 0.0094 | -95 | c.136 others(114): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238878 | GCCTCCCG others(88): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02622.hp2 NA18998.hp1 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0001a0002c0002t0048a0008c0008t0016 | a0001c0001t0001g0045 a0002c0002t0048g0068 a0008c0008t0016g0003 |
3 | 85 | 0.0353 | -95 | c.136 others(114): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239861 | CCCCTCTC others(88): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0009 | a0009c0015 | a0009c0015t0014 | a0009c0015t0014g0008 | 1 | 106 | 0.0094 | -95 | c.136 others(114): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239885 | CCCCTCTC others(88): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 104 | 0.0096 | -95 | c.136 others(114): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131036642 | CGGGGCCT others(88): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA18974.hp2 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0199 a0001c0002t0003g0020 a0001c0002t0003g0057 |
3 | 240 | 0.0125 | -95 | c.147 others(116): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77444289 | TGTATATA others(88): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01099.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0283 a0001c0001t0004g0022 a0001c0001t0004g0029 others(14): Show |
17 | 282 | 0.0603 | -95 | c.105 others(116): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85559654 | CGCAGTTC others(88): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(69): Show |
a0002a0004a0009others(9): Show | a0002c0001a0002c0017a0002c0028others(13): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0021others(24): Show | a0002c0001t0002g0014 a0002c0001t0002g0020 a0002c0001t0002g0022 others(69): Show |
72 | 312 | 0.2308 | -95 | c.663 others(114): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587676 | CTCTCCCT others(88): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0016 | a0001c0001t0001a0003c0016t0003 | a0001c0001t0001g0016 a0001c0001t0001g0096 a0003c0016t0003g0095 |
4 | 147 | 0.0272 | -95 | c.-41 others(106): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3927 | chrX | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036158 | ATAATATA others(88): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0333 | 1 | 374 | 0.0027 | -95 | c.214 others(114): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALKBH8_chr11_107497727_107570735 | 107547265 | AAGGTGCT others(88): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 398 | 0.0025 | -95 | c.771 others(112): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 7/11 | chr11 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107870 | AAAGAAAG others(88): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0002 | a0001c0002t0003g0022 a0002c0003t0002g0001 |
2 | 420 | 0.0048 | -95 | c.168 others(112): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516298 | AAAAATAT others(88): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 NA18946.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 400 | 0.0050 | -95 | c.-23 others(106): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2270 | chr4 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5902735 | GGGGAGGG others(88): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG03491.hp1 |
a0001a0004 | a0001c0005a0004c0009 | a0001c0005t0001a0004c0009t0001 | a0001c0005t0001g0049 a0004c0009t0001g0065 |
2 | 156 | 0.0128 | -95 | c.534 others(114): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5902767 | GGAAGGGA others(88): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0161 | 1 | 160 | 0.0063 | -95 | c.534 others(114): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36515473 | ACAACCCC others(88): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 304 | 0.0033 | -95 | c.160 others(114): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78051966 | TCAATCCA others(88): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0077 a0001c0004t0002g0226 |
2 | 224 | 0.0089 | -95 | c.257 others(116): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4771724 | GGACACAC others(88): Show |
G | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | -95 | c.-39 others(106): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3898 | chr7 | TogoVar | |||||||
APH1A_chr1_150260404_150274016 | 150273777 | TTCCTACC others(88): Show |
T | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -95 | c.-50 others(106): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 4762 | chr1 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48932028 | TGGCCGGG others(88): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0037 | 1 | 346 | 0.0029 | -95 | c.*68 others(106): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 3694 | chr12 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656843 | GGGGGTCG others(88): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0018others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0247 others(41): Show |
44 | 350 | 0.1257 | -95 | c.268 others(114): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151470651 | TTTTTAAG others(88): Show |
T | downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 416 | 0.0024 | -95 | c.*15 others(106): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 551 | chr6 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5648332 | TAAACACC others(88): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 425 | 0.0024 | -95 | c.517 others(110): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804252 | CCCTCCTT others(88): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 |
a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0084 a0001c0013t0004g0085 |
2 | 243 | 0.0082 | -95 | c.163 others(110): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669477 | GCCATGCT others(88): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 384 | 0.0052 | -95 | c.*29 others(106): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2958 | chr4 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145180 | GAGAAAGA others(88): Show |
G | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 247 | 0.0040 | -95 | c.639 others(112): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429235 | GGTGTGTC others(88): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(104): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0046 others(102): Show |
107 | 358 | 0.2989 | -95 | c.92- others(110): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39193143 | AAAACTTA others(88): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18942.hp2 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0209 a0002c0002t0022g0228 |
2 | 336 | 0.0060 | -95 | c.*30 others(106): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 41/41 | 3021 | chr21 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147775 | TTTGTACT others(88): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp1 HG03491.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0055 a0003c0003t0002g0056 |
2 | 396 | 0.0051 | -95 | c.*16 others(106): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1230 | chr22 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404737 | GGGAACGG others(88): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0031a0001c0006t0123 | a0001c0001t0031g0027 a0001c0006t0123g0065 |
2 | 316 | 0.0063 | -95 | c.*22 others(106): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 707 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404872 | GACGGGGT others(88): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0173 | 1 | 287 | 0.0035 | -95 | c.*21 others(106): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 572 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6713753 | TCCCAGCC others(88): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02630.hp2 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0007a0001c0010a0001c0012others(5): Show | a0001c0007t0002a0001c0010t0001a0001c0012t0001others(5): Show | a0001c0007t0002g0225 a0001c0010t0001g0067 a0001c0010t0001g0068 others(7): Show |
10 | 368 | 0.0272 | -95 | c.773 others(110): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 7/40 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059762 | AGTGGGGC others(88): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp1 others(17): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0007g0127 a0001c0001t0007g0135 a0001c0001t0008g0116 others(17): Show |
20 | 321 | 0.0623 | -95 | c.130 others(114): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54735996 | TATATATA others(88): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0068 others(10): Show |
13 | 115 | 0.1130 | -95 | c.116 others(116): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | chr3 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24317618 | GAAAGAAA others(88): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01258.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0027 others(17): Show |
20 | 364 | 0.0549 | -95 | c.212 others(114): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 524705 | CGTGGGTG others(88): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0184 | 1 | 408 | 0.0025 | -95 | c.-35 others(106): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3006 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 524741 | TCCTGCCT others(88): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0265 | 1 | 407 | 0.0025 | -95 | c.-34 others(106): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 2970 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 524773 | GCTGGACC others(88): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0015 | a0015c0027 | a0015c0027t0024 | a0015c0027t0024g0272 | 1 | 408 | 0.0025 | -95 | c.-34 others(106): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 2938 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88954369 | CTCCTGAC others(88): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02572.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0020t0029 | a0001c0001t0001g0110 a0001c0001t0002g0263 a0001c0020t0029g0115 |
3 | 282 | 0.0106 | -95 | c.151 others(114): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88954476 | GCCAAGGC others(88): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0181 |
2 | 276 | 0.0072 | -95 | c.151 others(114): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88954704 | GCCAAGGC others(88): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 281 | 0.0036 | -95 | c.151 others(114): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88955538 | CACCCAAG others(88): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0131 a0003c0007t0001g0143 a0003c0007t0001g0144 |
3 | 277 | 0.0108 | -95 | c.151 others(114): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82147868 | ATGAATGG others(88): Show |
A | intron_variant | MODIFIER | HG03516.hp1 HG03516.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0002 | a0001c0001t0001g0139 a0004c0007t0002g0160 |
2 | 250 | 0.0080 | -95 | c.245 others(114): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89186116 | TTACCCAG others(88): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01993.hp1 HG02559.hp1 others(1): Show |
a0002a0003a0011 | a0002c0004a0003c0003a0011c0026 | a0002c0004t0001a0003c0003t0001a0011c0026t0001 | a0002c0004t0001g0152 a0002c0004t0001g0171 a0003c0003t0001g0212 others(1): Show |
4 | 404 | 0.0099 | -95 | c.663 others(110): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89186158 | ACACAGTA others(88): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 NA20129.hp2 |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0018 | 3 | 396 | 0.0076 | -95 | c.663 others(110): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104582213 | ATCTTATT others(88): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 238 | 0.0042 | -95 | c.119 others(114): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763508 | CCCCCGCC others(88): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0135 | 1 | 412 | 0.0024 | -95 | c.-50 others(104): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 280 | chr8 | TogoVar | |||||||
CNFN_chr19_42382019_42395297 | 42388024 | AAAAAAAG others(88): Show |
A | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 274 | 0.0036 | -95 | c.113 others(110): Show |
CNFN | ENSG00000105427.10 | transcript | ENST00000222032.10 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
CNTRL_chr9_121069955_121182610 | 121092457 | ATATATAT others(88): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001a0007a0020 | a0001c0001a0001c0005a0007c0011others(1): Show | a0001c0001t0001a0001c0005t0001a0007c0011t0001others(1): Show | a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0001g0178 others(12): Show |
19 | 327 | 0.0581 | -95 | c.348 others(112): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489663 | TCCTTCCT others(88): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0029 | a0001c0005t0029g0087 | 1 | 155 | 0.0065 | -95 | c.385 others(114): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar |