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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD4_chr17_1774485_1834902 | 1826514 | A | AG | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02970.hp2 others(1): Show |
a0004a0026 | a0004c0010a0004c0014a0026c0042 | a0004c0010t0040a0004c0014t0024a0026c0042t0039 | a0004c0010t0040g0276 a0004c0014t0024g0373 a0004c0014t0024g0374 others(1): Show |
4 | 390 | 0.0103 | 1 | c.134 others(18): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1827353 | G | GA | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02965.hp1 others(5): Show |
a0004 | a0004c0010 | a0004c0010t0010a0004c0010t0027a0004c0010t0028 | a0004c0010t0010g0010 a0004c0010t0010g0011 a0004c0010t0010g0013 others(5): Show |
8 | 390 | 0.0205 | 1 | c.134 others(8): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1828352 | G | GA | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0027a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0021others(17): Show | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 others(35): Show |
39 | 390 | 0.1000 | 1 | c.-12 others(8): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1828599 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(132): Show |
a0002a0003a0005others(13): Show | a0002c0002a0003c0003a0005c0004others(13): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0023others(24): Show | a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 others(126): Show |
135 | 390 | 0.3462 | 1 | c.-12 others(8): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1830778 | T | TC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0027a0002c0002others(18): Show | a0001c0001t0009a0001c0027t0002a0002c0002t0002others(33): Show | a0001c0001t0009g0259 a0001c0027t0002g0260 a0001c0027t0002g0272 others(130): Show |
140 | 390 | 0.3590 | 1 | c.-10 others(6): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 877 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1831898 | C | CT | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01123.hp2 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0027a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0032others(21): Show | a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0202 others(37): Show |
40 | 390 | 0.1026 | 1 | c.-21 others(6): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 1997 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1833237 | T | TA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02040.hp2 NA18980.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0003 | a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0206 others(1): Show |
4 | 390 | 0.0103 | 1 | c.-35 others(6): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 3336 | chr17 | TogoVar | |||||||
SMYD5_chr2_73209245_73232221 | 73211314 | G | GA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(53): Show |
217 | 372 | 0.5833 | 1 | c.-29 others(12): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 2930 | chr2 | TogoVar | |||||||
SMYD5_chr2_73209245_73232221 | 73215367 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 others(5): Show |
33 | 372 | 0.0887 | 1 | c.96+ others(8): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD5_chr2_73209245_73232221 | 73215926 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01261.hp2 others(32): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0004c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0039 others(7): Show |
35 | 372 | 0.0941 | 1 | c.96+ others(8): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD5_chr2_73209245_73232221 | 73216958 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(33): Show |
137 | 372 | 0.3683 | 1 | c.97- others(8): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD5_chr2_73209245_73232221 | 73218920 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0066 | 1 | 372 | 0.0027 | 1 | c.160 others(4): Show |
p.Leu others(4): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 2/13 | 183/2554 | 161/1257 | 54/418 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SMYD5_chr2_73209245_73232221 | 73221432 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 others(9): Show |
40 | 372 | 0.1075 | 1 | c.537 others(8): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD5_chr2_73209245_73232221 | 73231635 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(31): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(11): Show |
34 | 372 | 0.0914 | 1 | c.*56 others(12): Show |
SMYD5 | ENSG00000135632.12 | transcript | ENST00000389501.9 | protein_coding | 4415 | chr2 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49983987 | T | TC | frameshift_variant | HIGH | NA18978.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0027 | 1 | 440 | 0.0023 | 1 | c.249 others(4): Show |
p.Arg others(4): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2/3 | 330/1705 | 250/795 | 84/264 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNAI1_chr20_49977980_49993886 | 49984009 | T | TC | frameshift_variant | HIGH | NA18978.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0027 | 1 | 440 | 0.0023 | 1 | c.271 others(4): Show |
p.Leu others(4): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2/3 | 352/1705 | 272/795 | 91/264 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNAI1_chr20_49977980_49993886 | 49984052 | G | GC | frameshift_variant | HIGH | NA18978.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0027 | 1 | 440 | 0.0023 | 1 | c.314 others(4): Show |
p.Pro others(5): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2/3 | 395/1705 | 315/795 | 105/264 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNAI1_chr20_49977980_49993886 | 49984346 | A | AC | frameshift_variant | HIGH | NA18978.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0027 | 1 | 440 | 0.0023 | 1 | c.606 others(4): Show |
p.Thr others(5): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2/3 | 687/1705 | 607/795 | 203/264 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNAI1_chr20_49977980_49993886 | 49986635 | T | TA | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG01884.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0012 |
17 | 440 | 0.0386 | 1 | c.611 others(9): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAI1_chr20_49977980_49993886 | 49988047 | T | TC | frameshift_variant | HIGH | NA18968.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0001 | 1 | 440 | 0.0023 | 1 | c.790 others(4): Show |
p.Arg others(5): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 3/3 | 871/1705 | 791/795 | 264/264 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNAI1_chr20_49977980_49993886 | 49988446 | A | AC | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG03654.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0001 a0001c0001t0017g0013 |
9 | 440 | 0.0205 | 1 | c.*39 others(5): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 3/3 | 392 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNAI1_chr20_49977980_49993886 | 49989808 | G | GA | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01175.hp2 HG01361.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0010 others(5): Show |
11 | 440 | 0.0250 | 1 | c.*17 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 923 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991297 | A | AG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0005g0004 others(8): Show |
54 | 440 | 0.1227 | 1 | c.*32 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2412 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0003g0001 others(4): Show |
35 | 440 | 0.0796 | 1 | c.*36 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49992254 | A | AT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03831.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0021 |
6 | 440 | 0.0136 | 1 | c.*41 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 3369 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49992979 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0003g0001 others(15): Show |
105 | 440 | 0.2386 | 1 | c.*49 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4094 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49993788 | C | CT | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0003g0001 a0002c0002t0002g0002 others(1): Show |
9 | 440 | 0.0205 | 1 | c.*57 others(12): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4903 | chr20 | TogoVar | |||||||
SNAI2_chr8_48912598_48926429 | 48914271 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00642.hp2 others(22): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0003c0003t0001g0014 |
25 | 398 | 0.0628 | 1 | c.*45 others(12): Show |
SNAI2 | ENSG00000019549.13 | transcript | ENST00000020945.4 | protein_coding | 3326 | chr8 | TogoVar | |||||||
SNAI2_chr8_48912598_48926429 | 48916154 | C | CA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
14 | 398 | 0.0352 | 1 | c.*26 others(12): Show |
SNAI2 | ENSG00000019549.13 | transcript | ENST00000020945.4 | protein_coding | 1443 | chr8 | TogoVar | |||||||
SNAI2_chr8_48912598_48926429 | 48922281 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(177): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(8): Show |
180 | 398 | 0.4523 | 1 | c.-10 others(12): Show |
SNAI2 | ENSG00000019549.13 | transcript | ENST00000020945.4 | protein_coding | 853 | chr8 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88673209 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(195): Show |
326 | 400 | 0.8150 | 1 | c.*52 others(12): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 4478 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88676698 | G | GC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(88): Show |
174 | 400 | 0.4350 | 1 | c.*17 others(12): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 989 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88678283 | G | GC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(100): Show |
187 | 400 | 0.4675 | 1 | c.*16 others(5): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 3/3 | 164 | chr16 | TogoVar | ||||||
SNAI3_chr16_88672688_88691507 | 88678491 | A | AG | frameshift_variant | HIGH | NA18997.hp2 | a0015 | a0015c0008 | a0015c0008t0002 | a0015c0008t0002g0127 | 1 | 400 | 0.0025 | 1 | c.835 others(4): Show |
p.Leu others(5): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 3/3 | 936/1740 | 835/879 | 279/292 | chr16 | TogoVar | |||
SNAI3_chr16_88672688_88691507 | 88678522 | G | GC | frameshift_variant | HIGH | NA18997.hp2 | a0015 | a0015c0008 | a0015c0008t0002 | a0015c0008t0002g0127 | 1 | 400 | 0.0025 | 1 | c.804 others(4): Show |
p.Arg others(5): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 3/3 | 905/1740 | 804/879 | 268/292 | chr16 | TogoVar | |||
SNAI3_chr16_88672688_88691507 | 88679775 | A | AG | intron_variant | MODIFIER | HG03654.hp2 NA18967.hp1 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 a0001c0001t0002g0154 a0001c0001t0002g0155 others(1): Show |
4 | 400 | 0.0100 | 1 | c.698 others(18): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88680275 | A | AT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00621.hp2 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0201 a0001c0001t0001g0215 others(46): Show |
66 | 400 | 0.1650 | 1 | c.697 others(8): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88681465 | A | AG | frameshift_variant | HIGH | NA18997.hp2 | a0015 | a0015c0008 | a0015c0008t0002 | a0015c0008t0002g0127 | 1 | 400 | 0.0025 | 1 | c.325 others(4): Show |
p.Leu others(5): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/3 | 426/1740 | 325/879 | 109/292 | chr16 | TogoVar | |||
SNAI3_chr16_88672688_88691507 | 88681506 | A | AG | frameshift_variant | HIGH | NA18989.hp2 | a0014 | a0014c0015 | a0014c0015t0003 | a0014c0015t0003g0235 | 1 | 400 | 0.0025 | 1 | c.284 others(4): Show |
p.Arg others(4): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/3 | 385/1740 | 284/879 | 95/292 | chr16 | TogoVar | |||
SNAI3_chr16_88672688_88691507 | 88681682 | G | GC | frameshift_variant | HIGH | NA18955.hp1 | a0013 | a0013c0016 | a0013c0016t0003 | a0013c0016t0003g0226 | 1 | 400 | 0.0025 | 1 | c.108 others(4): Show |
p.Leu others(4): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/3 | 209/1740 | 108/879 | 36/292 | chr16 | TogoVar | |||
SNAI3_chr16_88672688_88691507 | 88682762 | A | AT | intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0002g0036 others(6): Show |
10 | 400 | 0.0250 | 1 | c.77- others(8): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88683084 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(86): Show |
165 | 400 | 0.4125 | 1 | c.77- others(8): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88683553 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00642.hp1 others(74): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(42): Show |
77 | 400 | 0.1925 | 1 | c.77- others(8): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88687737 | C | CA | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02965.hp1 HG02976.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0012a0003c0004t0006 | a0001c0001t0003g0068 a0001c0001t0012g0077 a0003c0004t0006g0053 others(2): Show |
6 | 400 | 0.0150 | 1 | c.-13 others(12): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1231 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88687929 | T | TA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0224 others(8): Show |
12 | 400 | 0.0300 | 1 | c.-15 others(12): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1423 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88689904 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(92): Show |
165 | 400 | 0.4125 | 1 | c.-34 others(12): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 3398 | chr16 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42492676 | C | CA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01109.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(58): Show |
73 | 308 | 0.2370 | 1 | c.-30 others(12): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 2957 | chr15 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42497043 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG02723.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0215 a0001c0002t0004g0028 a0001c0002t0004g0210 others(4): Show |
8 | 308 | 0.0260 | 1 | c.-15 others(9): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42497046 | T | TC | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01123.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(84): Show |
106 | 308 | 0.3442 | 1 | c.-15 others(18): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 1/7 | chr15 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42497204 | A | AT | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02280.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0104 a0001c0001t0001g0105 others(17): Show |
22 | 308 | 0.0714 | 1 | c.-15 others(9): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |