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 | 1794105 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02698.hp2 |
a0009a0010 | a0009c0009a0010c0012 | a0009c0009t0009a0010c0012t0002 | a0009c0009t0009g0368 a0010c0012t0002g0355 |
2 | 390 | 0.0051 | 18 | c.153 others(37): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1824280 | T | TTGCAGTG others(11): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0369 | 1 | 390 | 0.0026 | 18 | c.134 others(35): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | C | CATACATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 440 | 0.0023 | 18 | c.-45 others(29): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0003g0029 others(3): Show |
22 | 440 | 0.0500 | 18 | c.-45 others(29): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88689672 | C | CGAGGCAG others(11): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 400 | 0.0025 | 18 | c.-32 others(29): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 3166 | chr16 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42525451 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0228 | 1 | 308 | 0.0033 | 18 | c.267 others(35): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10217311 | A | ATGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 340 | 0.0029 | 18 | c.-17 others(29): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1518 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10238905 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0292 others(24): Show |
27 | 340 | 0.0794 | 18 | c.-64 others(37): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20888311 | T | TCACACAC others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 NA19030.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0066a0001c0001t0067 | a0001c0001t0065g0330 a0001c0001t0066g0200 a0001c0001t0067g0025 |
3 | 382 | 0.0079 | 18 | c.*50 others(27): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 5/5 | 521 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SNAP47_chr1_227730435_227786226 | 227774417 | A | ACCCACCG others(11): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 396 | 0.0025 | 18 | c.111 others(37): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83556340 | G | GGAGAGGG others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 366 | 0.0027 | 18 | c.263 others(33): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83556340 | G | GGAGAGGG others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0001a0001c0021t0001 | a0001c0004t0001g0118 a0001c0021t0001g0320 |
2 | 366 | 0.0055 | 18 | c.263 others(33): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83610710 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | 366 | 0.0055 | 18 | c.885 others(31): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83628222 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18612.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0324 a0001c0001t0001g0325 |
3 | 366 | 0.0082 | 18 | c.766 others(35): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83675827 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00673.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0001g0187 others(11): Show |
14 | 366 | 0.0383 | 18 | c.131 others(37): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15441378 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 308 | 0.0033 | 18 | c.478 others(35): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18943.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0159 |
3 | 222 | 0.0135 | 18 | c.-47 others(37): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02071.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0164 |
3 | 262 | 0.0115 | 18 | c.152 others(37): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241011139 | G | GGGTCTCC others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02486.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0037a0002c0009a0002c0010others(11): Show | a0001c0037t0020a0002c0009t0004a0002c0009t0012others(15): Show | a0001c0037t0020g0030 a0002c0009t0004g0040 a0002c0009t0012g0034 others(16): Show |
19 | 344 | 0.0552 | 18 | c.213 others(37): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241024235 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0011 | a0002c0011t0011 | a0002c0011t0011g0234 | 1 | 344 | 0.0029 | 18 | c.214 others(35): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 HG03492.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0011others(2): Show | a0001c0001t0052a0001c0002t0017a0002c0011t0011others(3): Show | a0001c0001t0052g0147 a0001c0002t0017g0143 a0002c0011t0011g0128 others(4): Show |
7 | 344 | 0.0204 | 18 | c.806 others(33): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241057380 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02273.hp1 HG03209.hp1 others(1): Show |
a0002a0008a0021 | a0002c0003a0002c0036a0008c0033others(1): Show | a0002c0003t0007a0002c0036t0014a0008c0033t0016others(1): Show | a0002c0003t0007g0284 a0002c0036t0014g0326 a0008c0033t0016g0221 others(1): Show |
4 | 344 | 0.0116 | 18 | c.225 others(37): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0203 | 1 | 394 | 0.0025 | 18 | c.*25 others(29): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37536802 | T | TCAACAAC others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0084 | a0001c0002t0084g0071 | 1 | 394 | 0.0025 | 18 | c.*92 others(27): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 945 | chr1 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43296415 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0045 a0001c0001t0014g0023 |
2 | 258 | 0.0078 | 18 | c.-16 others(37): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43339818 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 258 | 0.0039 | 18 | c.732 others(33): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0075 others(6): Show |
13 | 442 | 0.0294 | 18 | c.309 others(35): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40756193 | T | TGGGGTGG others(11): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 412 | 0.0024 | 18 | c.74- others(33): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40769893 | C | CTGAGGCA others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 others(5): Show |
10 | 412 | 0.0243 | 18 | c.*47 others(29): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 4505 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45683036 | G | GAGGATTT others(11): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 438 | 0.0023 | 18 | c.*44 others(29): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 4423 | chr19 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24561064 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0232 a0001c0002t0002g0242 a0001c0002t0002g0243 others(2): Show |
5 | 400 | 0.0125 | 18 | c.126 others(35): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPG_chr2_70276362_70298740 | 70283096 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0270 |
2 | 424 | 0.0047 | 18 | c.181 others(35): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02735.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0004a0001c0002t0018others(1): Show | a0001c0001t0039g0053 a0001c0002t0004g0045 a0001c0002t0018g0036 others(1): Show |
4 | 218 | 0.0184 | 18 | c.580 others(37): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69279515 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0027 | 1 | 218 | 0.0046 | 18 | c.114 others(37): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50053623 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02809.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0004g0102 others(5): Show |
8 | 106 | 0.0755 | 18 | c.-10 others(41): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50376756 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0012 | 1 | 106 | 0.0094 | 18 | c.-27 others(37): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50541243 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 106 | 0.0094 | 18 | c.680 others(35): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50550693 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0026 a0001c0001t0006g0051 a0001c0001t0006g0066 |
3 | 106 | 0.0283 | 18 | c.681 others(35): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50570591 | G | GTTGTTAT others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0044 | 1 | 106 | 0.0094 | 18 | c.810 others(37): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50601152 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0052 | 1 | 106 | 0.0094 | 18 | c.849 others(37): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50701579 | T | TTTCTTCT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0024a0002c0003t0018 | a0001c0001t0005g0021 a0001c0001t0024g0058 a0002c0003t0018g0045 |
3 | 106 | 0.0283 | 18 | c.103 others(37): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 948493 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0046 | 1 | 190 | 0.0053 | 18 | c.-25 others(29): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2355 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965561 | T | TTCTGTGG others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 NA20129.hp1 |
a0001a0004a0005 | a0001c0002a0004c0014a0005c0006 | a0001c0002t0002a0004c0014t0002a0005c0006t0002 | a0001c0002t0002g0002 a0004c0014t0002g0001 a0005c0006t0002g0003 |
3 | 190 | 0.0158 | 18 | c.72+ others(35): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 996673 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0007a0013 | a0007c0017a0013c0018 | a0007c0017t0001a0013c0018t0001 | a0007c0017t0001g0118 a0013c0018t0001g0045 |
2 | 190 | 0.0105 | 18 | c.72+ others(35): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221774 | T | TCTGTCTC others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03471.hp1 NA18990.hp2 |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0011 | a0001c0001t0001a0005c0006t0002a0008c0011t0001 | a0001c0001t0001g0102 a0005c0006t0002g0003 a0008c0011t0001g0004 |
3 | 190 | 0.0158 | 18 | c.719 others(37): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222041 | C | CTGTTTCT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 190 | 0.0053 | 18 | c.719 others(37): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222079 | G | GTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0047 a0004c0004t0001g0116 |
2 | 190 | 0.0105 | 18 | c.719 others(37): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222115 | G | GTCTCTGT others(11): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0162 | 1 | 190 | 0.0053 | 18 | c.719 others(37): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1336798 | A | ATTCTGTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(8): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0020 | a0001c0001t0001a0001c0002t0001a0011c0020t0001 | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0056 others(8): Show |
11 | 190 | 0.0579 | 18 | c.148 others(39): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26291922 | T | TGCGCGGG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02004.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016a0001c0001t0025others(2): Show | a0001c0001t0007g0001 a0001c0001t0007g0011 a0001c0001t0007g0013 others(9): Show |
12 | 390 | 0.0308 | 18 | c.-17 others(27): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/7 | 54485 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |