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 | 109495477 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01069.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0001c0001t0055a0001c0001t0058others(1): Show | a0001c0001t0021g0027 a0001c0001t0021g0028 a0001c0001t0055g0083 others(2): Show |
5 | 172 | 0.0291 | -12 | c.248 others(31): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8210746 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0224 | 1 | 374 | 0.0027 | -12 | c.247 others(27): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8233632 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0026 | a0026c0049 | a0026c0049t0002 | a0026c0049t0002g0255 | 1 | 374 | 0.0027 | -12 | c.328 others(29): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8234495 | CCATCCAT others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0036a0001c0091 | a0001c0036t0001a0001c0036t0003a0001c0091t0003 | a0001c0036t0001g0122 a0001c0036t0003g0123 a0001c0091t0003g0074 |
3 | 374 | 0.0080 | -12 | c.328 others(29): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8234500 | CATCCATT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0294 | 1 | 374 | 0.0027 | -12 | c.328 others(29): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | chr4 | TogoVar | |||||||
SH3TC1_chr4_8194290_8246103 | 8234570 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(87): Show |
a0001a0002a0012others(11): Show | a0001c0008a0001c0009a0002c0003others(19): Show | a0001c0008t0001a0001c0008t0002a0001c0009t0002others(23): Show | a0001c0008t0001g0112 a0001c0008t0001g0201 a0001c0008t0002g0094 others(86): Show |
90 | 374 | 0.2406 | -12 | c.328 others(29): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8239553 | GGCACATG others(5): Show |
G | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 374 | 0.0027 | -12 | c.375 others(31): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148987809 | CTGTGTGT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02647.hp2 HG03041.hp2 |
a0001a0010 | a0001c0012a0010c0034 | a0001c0012t0184a0010c0034t0137 | a0001c0012t0184g0066 a0010c0034t0137g0217 |
2 | 326 | 0.0061 | -12 | c.*16 others(25): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 16890 | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148994600 | ATGGTTGG others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0007a0001c0009others(7): Show | a0001c0002t0068a0001c0002t0070a0001c0007t0027others(15): Show | a0001c0002t0068g0051 a0001c0002t0070g0032 a0001c0007t0027g0211 others(17): Show |
22 | 326 | 0.0675 | -12 | c.*10 others(25): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 10099 | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 149001800 | GGAAATTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01257.hp1 |
a0001 | a0001c0017 | a0001c0017t0181a0001c0017t0182 | a0001c0017t0181g0202 a0001c0017t0182g0201 |
2 | 326 | 0.0061 | -12 | c.*28 others(23): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 2899 | chr5 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 237346 | GGTGACAC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(97): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 others(67): Show |
100 | 360 | 0.2778 | -12 | c.292 others(29): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 238259 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(94): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(62): Show |
97 | 360 | 0.2694 | -12 | c.292 others(29): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50693074 | ATCCGTGG others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 HG01975.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0010a0002c0001t0088 | a0001c0002t0001g0181 a0001c0002t0010g0197 a0002c0001t0088g0281 |
3 | 316 | 0.0095 | -12 | c.196 others(31): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50694019 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0012 | a0001c0003t0011g0050 a0001c0003t0012g0051 |
2 | 316 | 0.0063 | -12 | c.196 others(31): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHARPIN_chr8_144093637_144108773 | 144100684 | TGGCCCCG others(5): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 334 | 0.0030 | -12 | c.377 others(27): Show |
SHARPIN | ENSG00000179526.17 | transcript | ENST00000398712.7 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37919304 | CACACTCA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0066 | a0001c0002t0066g0061 | 1 | 330 | 0.0030 | -12 | c.*50 others(21): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 6/6 | 505 | chr9 | TogoVar | ||||||
SHB_chr9_37910898_38074227 | 38071347 | TGTGTGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp1 NA18612.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0178 a0001c0003t0002g0179 |
2 | 330 | 0.0061 | -12 | c.-27 others(23): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2121 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071349 | TGTGAGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(55): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(13): Show | a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 others(55): Show |
58 | 330 | 0.1758 | -12 | c.-27 others(23): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2123 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071351 | TGAGAGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0010 | a0010c0025 | a0010c0025t0045 | a0010c0025t0045g0187 | 1 | 330 | 0.0030 | -12 | c.-27 others(23): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2125 | chr9 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432422 | CATCGTGA others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0149 | 1 | 212 | 0.0047 | -12 | c.111 others(31): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432828 | CATCGTGA others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0147 | 1 | 212 | 0.0047 | -12 | c.111 others(31): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434256 | GTGAGTGA others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0003g0050 others(3): Show |
6 | 212 | 0.0283 | -12 | c.111 others(29): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434488 | GTGAGTGA others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 212 | 0.0047 | -12 | c.111 others(29): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 437320 | ATGCTCAT others(5): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 212 | 0.0047 | -12 | c.721 others(27): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 4/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 465877 | TGGGTGGA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 212 | 0.0047 | -12 | c.-48 others(23): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 4845 | chr19 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89035851 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0130 |
3 | 188 | 0.0160 | -12 | c.165 others(31): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89059309 | GGTGGAGG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0035 others(99): Show |
105 | 188 | 0.5585 | -12 | c.835 others(29): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89059347 | GGTGGAGG others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01109.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0002g0044 a0001c0001t0002g0107 a0001c0001t0002g0110 others(28): Show |
31 | 188 | 0.1649 | -12 | c.835 others(29): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89077176 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0037 | 1 | 188 | 0.0053 | -12 | c.609 others(27): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48848015 | AAACAAAA others(5): Show |
A | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0214 | 1 | 384 | 0.0026 | -12 | c.130 others(31): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48867422 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01981.hp2 others(22): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0003a0001c0001t0013a0005c0013t0003 | a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0096 others(22): Show |
25 | 384 | 0.0651 | -12 | c.946 others(27): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 6/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48904940 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0178 | 1 | 384 | 0.0026 | -12 | c.657 others(31): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916273 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01167.hp2 NA18943.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0139 a0001c0001t0002g0163 a0001c0001t0002g0339 others(2): Show |
5 | 384 | 0.0130 | -12 | c.656 others(29): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48917243 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0087 a0001c0001t0001g0183 a0001c0001t0001g0299 others(10): Show |
13 | 384 | 0.0339 | -12 | c.656 others(29): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48968538 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0164 a0001c0002t0004g0157 |
2 | 384 | 0.0052 | -12 | c.-55 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 4620 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182918223 | CACATATA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 302 | 0.0033 | -12 | c.118 others(33): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(9): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0119 others(9): Show |
12 | 302 | 0.0397 | -12 | c.118 others(31): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182927050 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp2 HG02080.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0278 others(3): Show |
6 | 302 | 0.0199 | -12 | c.118 others(31): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182930547 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02559.hp2 others(3): Show |
a0001a0006 | a0001c0003a0006c0007 | a0001c0003t0001a0006c0007t0001 | a0001c0003t0001g0281 a0001c0003t0001g0286 a0006c0007t0001g0298 others(3): Show |
6 | 302 | 0.0199 | -12 | c.107 others(29): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182930551 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG03540.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0122 a0001c0001t0001g0221 a0001c0001t0001g0243 others(1): Show |
4 | 302 | 0.0133 | -12 | c.107 others(29): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182930653 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02109.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0075 a0001c0001t0001g0276 a0001c0001t0001g0278 others(2): Show |
5 | 302 | 0.0166 | -12 | c.107 others(29): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952183 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 302 | 0.0033 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952187 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02273.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0207 |
2 | 302 | 0.0066 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952189 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0293 |
2 | 302 | 0.0066 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952191 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG06807.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0244 others(1): Show |
4 | 302 | 0.0133 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952225 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG03669.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(4): Show |
7 | 302 | 0.0232 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952229 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 302 | 0.0033 | -12 | c.405 others(27): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4286223 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02572.hp1 others(10): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0003others(2): Show | a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0330 others(8): Show |
13 | 462 | 0.0281 | -12 | c.716 others(29): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHD_chr19_4274266_4295722 | 4286226 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02004.hp2 HG02738.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 others(7): Show |
10 | 462 | 0.0217 | -12 | c.716 others(29): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4286227 | TTTCTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(57): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0006others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0003t0002others(8): Show | a0002c0002t0001g0246 a0002c0002t0001g0253 a0002c0002t0001g0258 others(43): Show |
60 | 462 | 0.1299 | -12 | c.716 others(29): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |