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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3RF3_chr2_109124205_109509634 | 109248882 | GTCCTT | G | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0060 | a0001c0001t0022g0149 a0001c0001t0060g0132 |
2 | 172 | 0.0116 | -5 | c.574 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109248887 | TTCCTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(79): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0037 others(79): Show |
82 | 172 | 0.4767 | -5 | c.574 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109267898 | GCAGCA | G | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 others(19): Show |
22 | 172 | 0.1279 | -5 | c.574 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109325331 | CTTTTT | C | intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0003a0001c0001t0009a0001c0001t0037others(2): Show | a0001c0001t0003g0129 a0001c0001t0009g0143 a0001c0001t0037g0137 others(2): Show |
5 | 172 | 0.0291 | -5 | c.574 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109416924 | AGAATT | A | intron_variant | MODIFIER | HG01891.hp2 HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0003a0001c0014a0001c0022 | a0001c0003t0020a0001c0014t0066a0001c0022t0051 | a0001c0003t0020g0089 a0001c0014t0066g0066 a0001c0022t0051g0013 |
3 | 172 | 0.0174 | -5 | c.130 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109484063 | CTTTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01099.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0084 others(31): Show |
34 | 172 | 0.1977 | -5 | c.214 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8210746 | GAAAAA | G | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG01517.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0017a0001c0020others(8): Show | a0001c0002t0001a0001c0017t0001a0001c0020t0001others(8): Show | a0001c0002t0001g0121 a0001c0017t0001g0300 a0001c0020t0001g0020 others(9): Show |
13 | 374 | 0.0348 | -5 | c.247 others(20): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8236343 | GCTGGT | G | frameshift_variant | HIGH | HG02148.hp1 | a0025 | a0025c0083 | a0025c0083t0001 | a0025c0083t0001g0215 | 1 | 374 | 0.0027 | -5 | c.347 others(14): Show |
p.Leu others(6): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 16/18 | 3616/4303 | 3472/4011 | 1158/1336 | chr4 | TogoVar | |||
SH3TC2_chr5_148977150_149068062 | 149044524 | GTACCA | G | splice_region_variant others(1): Show |
LOW | HG02896.hp2 HG02897.hp1 NA18522.hp1 |
a0001 | a0001c0007 | a0001c0007t0027a0001c0007t0081 | a0001c0007t0027g0211 a0001c0007t0027g0213 a0001c0007t0081g0212 |
3 | 326 | 0.0092 | -5 | c.385 others(16): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 245286 | TTCTTA | T | intron_variant | MODIFIER | HG02647.hp1 HG02897.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0143 |
3 | 360 | 0.0083 | -5 | c.291 others(22): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTC | T | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01256.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(15): Show | a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0006g0277 others(18): Show |
21 | 316 | 0.0665 | -5 | c.107 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHBG_chr17_7625135_7638372 | 7629375 | CTAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00735.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(1): Show |
64 | 432 | 0.1482 | -5 | c.-79 others(14): Show |
SHBG | ENSG00000129214.15 | transcript | ENST00000380450.9 | protein_coding | 759 | chr17 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37920275 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp1 others(106): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0218 others(106): Show |
109 | 330 | 0.3303 | -5 | c.134 others(22): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37925610 | GGTAAT | G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(14): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0035a0001c0004t0072a0001c0005t0007others(5): Show | a0001c0003t0035g0014 a0001c0004t0072g0179 a0001c0005t0007g0045 others(14): Show |
17 | 330 | 0.0515 | -5 | c.134 others(24): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37990211 | TGTTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(207): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(204): Show |
210 | 330 | 0.6364 | -5 | c.839 others(24): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 463300 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02165.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0044 a0001c0001t0002g0052 a0001c0001t0002g0057 others(14): Show |
17 | 212 | 0.0802 | -5 | c.-23 others(16): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 2268 | chr19 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89049261 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0029a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0029g0024 a0001c0002t0001g0155 a0001c0002t0001g0156 others(23): Show |
26 | 188 | 0.1383 | -5 | c.963 others(22): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 7/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89142944 | AGTATT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0179 a0001c0004t0010g0180 a0001c0004t0010g0181 others(1): Show |
4 | 188 | 0.0213 | -5 | c.475 others(24): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89146358 | AAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0153 a0001c0001t0002g0044 a0001c0001t0005g0026 others(27): Show |
31 | 188 | 0.1649 | -5 | c.474 others(24): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89182522 | AAAAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show |
20 | 188 | 0.1064 | -5 | c.-40 others(16): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3705 | chr9 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48841045 | TATTGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(91): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0044 others(90): Show |
94 | 384 | 0.2448 | -5 | c.148 others(24): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48850233 | ATAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(95): Show |
a0001a0004a0005 | a0001c0001a0001c0006a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 others(95): Show |
98 | 384 | 0.2552 | -5 | c.130 others(22): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48956970 | CTTTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 others(211): Show |
215 | 384 | 0.5599 | -5 | c.585 others(22): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182898672 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp2 others(11): Show |
a0001a0003a0006 | a0001c0003a0003c0006a0003c0008others(1): Show | a0001c0003t0001a0003c0006t0001a0003c0008t0001others(1): Show | a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 others(11): Show |
14 | 302 | 0.0464 | -5 | c.*13 others(16): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1192 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182915161 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG02886.hp2 HG02896.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0084 a0001c0009t0001g0259 a0002c0002t0001g0039 others(6): Show |
9 | 302 | 0.0298 | -5 | c.118 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924675 | AGAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG02015.hp1 HG02922.hp2 others(7): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0016 | a0001c0001t0001a0002c0002t0001a0007c0016t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0188 others(7): Show |
10 | 302 | 0.0331 | -5 | c.118 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952192 | ATATAT | A | intron_variant | MODIFIER | HG03942.hp1 NA18990.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0203 |
3 | 302 | 0.0099 | -5 | c.405 others(20): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1_chr16_46573591_46626379 | 46618563 | TCAAAA | T | intron_variant | MODIFIER | HG03490.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | 184 | 0.0109 | -5 | c.104 others(20): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4281448 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 others(135): Show |
175 | 462 | 0.3788 | -5 | c.297 others(22): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHD_chr19_4274266_4295722 | 4285889 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01069.hp2 others(16): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0155 a0001c0001t0002g0036 others(13): Show |
19 | 462 | 0.0411 | -5 | c.716 others(22): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHF_chr15_45162214_45192966 | 45192252 | TTTTTA | T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0148 others(8): Show |
14 | 398 | 0.0352 | -5 | c.-43 others(16): Show |
SHF | ENSG00000138606.20 | transcript | ENST00000690270.1 | protein_coding | 4287 | chr15 | TogoVar | |||||||
SHISA2_chr13_26039597_26057016 | 26046081 | TTAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG03098.hp1 HG03195.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0027a0001c0002t0070a0001c0006t0027others(2): Show | a0001c0001t0027g0202 a0001c0002t0070g0208 a0001c0006t0027g0064 others(2): Show |
6 | 456 | 0.0132 | -5 | c.*42 others(14): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 2/2 | 427 | chr13 | TogoVar | ||||||
SHISA2_chr13_26039597_26057016 | 26051983 | TCGCCC | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(88): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(219): Show |
361 | 456 | 0.7917 | -5 | c.-10 others(16): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 1/2 | 1009 | chr13 | TogoVar | ||||||
SHISA4_chr1_201883898_201897587 | 201885788 | AAGCCC | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG03195.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0002 a0001c0001t0010g0002 |
4 | 418 | 0.0096 | -5 | c.-32 others(16): Show |
SHISA4 | ENSG00000198892.7 | transcript | ENST00000362011.7 | protein_coding | 3109 | chr1 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48493523 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0021 a0001c0001t0001g0067 a0001c0001t0001g0085 others(5): Show |
8 | 290 | 0.0276 | -5 | c.233 others(22): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11269040 | GTCTGT | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0015a0001c0001t0052others(1): Show | a0001c0001t0007g0002 a0001c0001t0015g0083 a0001c0001t0052g0111 others(1): Show |
4 | 192 | 0.0208 | -5 | c.799 others(22): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11278283 | TACCCC | T | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0011 | a0001c0001t0007g0072 a0001c0002t0011g0192 |
2 | 192 | 0.0104 | -5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11316414 | TCTCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0028 others(27): Show |
30 | 192 | 0.1563 | -5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11317814 | CTTTAT | C | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 a0001c0001t0007g0119 |
2 | 192 | 0.0104 | -5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11412542 | CTTCTT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0149 a0001c0001t0002g0156 a0001c0001t0002g0157 others(2): Show |
5 | 192 | 0.0260 | -5 | c.895 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11461396 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01106.hp1 others(45): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 others(45): Show |
48 | 192 | 0.2500 | -5 | c.895 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11469018 | CAAAAA | C | intron_variant | MODIFIER | HG02165.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0056 a0001c0001t0009g0003 others(2): Show |
5 | 192 | 0.0260 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11476311 | TCTTTA | T | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0002t0011a0001c0003t0011 | a0001c0001t0011g0068 a0001c0002t0011g0192 a0001c0003t0011g0121 |
3 | 192 | 0.0156 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11489309 | TCTTCC | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0001g0086 a0001c0001t0009g0003 a0001c0001t0013g0120 others(2): Show |
5 | 192 | 0.0260 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11515275 | GAAAGA | G | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0014a0001c0001t0021a0001c0002t0014others(2): Show | a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0021g0132 others(3): Show |
6 | 192 | 0.0313 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11525647 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(73): Show |
76 | 192 | 0.3958 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11525652 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0014a0001c0001t0021a0001c0002t0014others(2): Show | a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0021g0132 others(3): Show |
6 | 192 | 0.0313 | -5 | c.896 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12939042 | ATCTCT | A | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0049a0001c0001t0055others(2): Show | a0001c0001t0004g0041 a0001c0001t0049g0074 a0001c0001t0055g0118 others(2): Show |
5 | 214 | 0.0234 | -5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12968189 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01891.hp2 others(24): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0002g0060 others(24): Show |
27 | 214 | 0.1262 | -5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970493 | ATATAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0063 a0001c0001t0002g0201 a0001c0001t0004g0048 others(4): Show |
7 | 214 | 0.0327 | -5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |