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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3RF2_chr5_145931578_146068292 | 146022874 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01928.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0082 a0001c0001t0002g0040 a0001c0001t0002g0060 others(7): Show |
10 | 272 | 0.0368 | -6 | c.105 others(25): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146028163 | AACACAC | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02615.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0001a0005c0004t0001a0005c0004t0002 | a0002c0002t0001g0072 a0005c0004t0001g0150 a0005c0004t0001g0151 others(1): Show |
4 | 272 | 0.0147 | -6 | c.105 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146028595 | CCCACCA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(72): Show |
a0001a0004a0014others(3): Show | a0001c0001a0001c0011a0001c0014others(6): Show | a0001c0001t0002a0001c0011t0001a0001c0014t0002others(6): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(72): Show |
75 | 272 | 0.2757 | -6 | c.105 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064586 | GGAGAGA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(23): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 others(173): Show |
178 | 272 | 0.6544 | -6 | c.*18 others(17): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1295 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064676 | AAGAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01169.hp1 others(1): Show |
a0001a0021 | a0001c0001a0021c0029 | a0001c0001t0002a0021c0029t0002 | a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0136 others(1): Show |
4 | 272 | 0.0147 | -6 | c.*19 others(17): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1385 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064858 | AAGAAAG | A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00735.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0130 a0001c0001t0002g0142 a0002c0002t0001g0004 others(6): Show |
9 | 272 | 0.0331 | -6 | c.*21 others(17): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1567 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146067779 | GCCCACA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(89): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0010a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(9): Show | a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0090 others(89): Show |
92 | 272 | 0.3382 | -6 | c.*50 others(17): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 4488 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109195208 | ATAGGAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(137): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 others(137): Show |
140 | 172 | 0.8140 | -6 | c.573 others(25): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109238449 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0049 others(27): Show |
30 | 172 | 0.1744 | -6 | c.573 others(27): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109240767 | GTCCTTC | G | intron_variant | MODIFIER | HG02132.hp2 HG03942.hp2 HG04115.hp2 others(1): Show |
a0001a0003 | a0001c0005a0001c0019a0003c0006others(1): Show | a0001c0005t0025a0001c0019t0004a0003c0006t0008others(1): Show | a0001c0005t0025g0146 a0001c0019t0004g0059 a0003c0006t0008g0008 others(1): Show |
4 | 172 | 0.0233 | -6 | c.574 others(27): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109249513 | CTTTCTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01256.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0002g0084 others(15): Show |
18 | 172 | 0.1047 | -6 | c.574 others(25): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109301348 | GTGTGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 others(73): Show |
76 | 172 | 0.4419 | -6 | c.574 others(25): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109367307 | GTCTTGC | G | intron_variant | MODIFIER | HG01243.hp1 NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0041a0001c0003t0065a0001c0010t0027 | a0001c0001t0041g0050 a0001c0003t0065g0106 a0001c0010t0027g0018 |
3 | 172 | 0.0174 | -6 | c.850 others(23): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109370190 | GGTCTCT | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 others(34): Show |
37 | 172 | 0.2151 | -6 | c.850 others(23): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109458572 | CAGAGAG | C | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01243.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0004g0047 a0001c0001t0005g0031 a0001c0001t0007g0140 others(13): Show |
16 | 172 | 0.0930 | -6 | c.214 others(25): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109471206 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0037others(2): Show | a0001c0001t0002g0073 a0001c0001t0007g0140 a0001c0001t0037g0137 others(2): Show |
5 | 172 | 0.0291 | -6 | c.214 others(27): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109477613 | GGTGTGT | G | intron_variant | MODIFIER | HG01175.hp2 HG02165.hp2 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0129 a0001c0001t0006g0060 a0001c0001t0007g0142 others(4): Show |
7 | 172 | 0.0407 | -6 | c.214 others(27): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8239304 | CACACAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(127): Show |
a0001a0002a0007others(7): Show | a0001c0001a0001c0002a0001c0008others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(122): Show |
130 | 374 | 0.3476 | -6 | c.375 others(25): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 17/17 | chr4 | TogoVar | |||||||
SH3TC2_chr5_148977150_149068062 | 148980642 | TTTGTTG | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02970.hp2 others(1): Show |
a0001a0008 | a0001c0009a0008c0037 | a0001c0009t0022a0008c0037t0023 | a0001c0009t0022g0003 a0008c0037t0023g0065 |
4 | 326 | 0.0123 | -6 | c.*24 others(19): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 1507 | chr5 | TogoVar | |||||||
SH3TC2_chr5_148977150_149068062 | 148987809 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01074.hp2 others(22): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0017a0001c0033others(4): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0014others(10): Show | a0001c0001t0007g0005 a0001c0001t0007g0016 a0001c0001t0009g0015 others(17): Show |
25 | 326 | 0.0767 | -6 | c.*16 others(19): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 16896 | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 149016421 | ACAAAGT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02145.hp2 others(9): Show |
a0002 | a0002c0003a0002c0024 | a0002c0003t0017a0002c0003t0106a0002c0003t0107others(8): Show | a0002c0003t0017g0225 a0002c0003t0017g0233 a0002c0003t0106g0224 others(9): Show |
12 | 326 | 0.0368 | -6 | c.305 others(25): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 238259 | TTGTGTG | T | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0001g0098 a0001c0001t0006g0195 a0001c0002t0002g0046 others(3): Show |
7 | 360 | 0.0194 | -6 | c.292 others(23): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50694019 | CCACACA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0018others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0010others(8): Show | a0001c0002t0001g0093 a0001c0002t0003g0196 a0001c0002t0010g0197 others(10): Show |
13 | 316 | 0.0411 | -6 | c.196 others(25): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHARPIN_chr8_144093637_144108773 | 144100684 | TGGCCCC | T | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 334 | 0.0150 | -6 | c.377 others(21): Show |
SHARPIN | ENSG00000179526.17 | transcript | ENST00000398712.7 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38029595 | ATTCTCT | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00639.hp2 others(64): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(30): Show | a0001c0001t0001g0252 a0001c0002t0002g0059 a0001c0002t0002g0060 others(64): Show |
67 | 330 | 0.2030 | -6 | c.718 others(25): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071349 | TGTGAGA | T | upstream_gene_variant | MODIFIER | HG02897.hp2 NA19076.hp2 NA21309.hp1 |
a0001a0011 | a0001c0001a0011c0027 | a0001c0001t0002a0001c0001t0078a0011c0027t0038 | a0001c0001t0002g0270 a0001c0001t0078g0325 a0011c0027t0038g0195 |
3 | 330 | 0.0091 | -6 | c.-27 others(17): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2123 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071351 | TGAGAGA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01070.hp1 others(53): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0252 a0001c0001t0001g0265 a0001c0001t0001g0310 others(52): Show |
56 | 330 | 0.1697 | -6 | c.-27 others(17): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2125 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89035851 | ATGTGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0030others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0121 a0001c0001t0007g0150 others(4): Show |
8 | 188 | 0.0426 | -6 | c.165 others(25): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89080734 | AATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0029others(9): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0153 others(19): Show |
23 | 188 | 0.1223 | -6 | c.546 others(23): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89097106 | GAAAAAA | G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0063 a0001c0001t0003g0055 a0001c0001t0005g0026 others(11): Show |
14 | 188 | 0.0745 | -6 | c.545 others(25): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48828113 | GTGTATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0050 others(56): Show |
61 | 384 | 0.1589 | -6 | c.173 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48840856 | GGAGATC | G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0038 others(4): Show |
7 | 384 | 0.0182 | -6 | c.148 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48859306 | GGTGTGT | G | intron_variant | MODIFIER | HG00735.hp2 HG01981.hp2 HG02004.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0096 others(17): Show |
20 | 384 | 0.0521 | -6 | c.947 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 6/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48880985 | AGTGTGT | A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01109.hp1 others(48): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0067 others(48): Show |
51 | 384 | 0.1328 | -6 | c.840 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916271 | GCTCACA | G | intron_variant | MODIFIER | HG01243.hp1 NA18994.hp2 NA19030.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0251 a0001c0001t0002g0303 a0001c0001t0005g0213 others(1): Show |
4 | 384 | 0.0104 | -6 | c.656 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916273 | TCACACA | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0059 a0001c0001t0001g0101 a0001c0001t0001g0126 others(59): Show |
63 | 384 | 0.1641 | -6 | c.656 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48917243 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(87): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0093 others(86): Show |
90 | 384 | 0.2344 | -6 | c.656 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48956970 | CTTTCTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01175.hp1 others(59): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0026 others(58): Show |
62 | 384 | 0.1615 | -6 | c.585 others(23): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48968538 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(75): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0119 others(74): Show |
78 | 384 | 0.2031 | -6 | c.-55 others(17): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 4620 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182898672 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02451.hp1 others(8): Show |
a0001a0003a0006 | a0001c0003a0003c0008a0006c0007 | a0001c0003t0001a0003c0008t0001a0006c0007t0001 | a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 others(8): Show |
11 | 302 | 0.0364 | -6 | c.*13 others(17): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1192 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182904534 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp1 HG02647.hp2 NA18990.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0111 a0001c0001t0001g0145 a0006c0007t0001g0299 |
3 | 302 | 0.0099 | -6 | c.133 others(23): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182915161 | CAAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02622.hp2 others(6): Show |
a0001a0003 | a0001c0009a0003c0006a0003c0008 | a0001c0009t0001a0003c0006t0001a0003c0008t0001 | a0001c0009t0001g0258 a0003c0006t0001g0056 a0003c0006t0001g0058 others(6): Show |
9 | 302 | 0.0298 | -6 | c.118 others(25): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182927050 | CTATATA | C | intron_variant | MODIFIER | NA18961.hp2 NA18970.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0086 a0002c0002t0001g0014 a0002c0002t0001g0027 |
3 | 302 | 0.0099 | -6 | c.118 others(25): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182930551 | GTATATA | G | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01069.hp1 others(15): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0116 others(15): Show |
18 | 302 | 0.0596 | -6 | c.107 others(23): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952231 | TATATAC | T | intron_variant | MODIFIER | NA18970.hp1 NA18980.hp1 NA19000.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0158 others(1): Show |
4 | 302 | 0.0133 | -6 | c.405 others(21): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182955054 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02622.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0003c0006t0001others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0003t0001g0292 others(12): Show |
15 | 302 | 0.0497 | -6 | c.-19 others(17): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1889 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182955073 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03195.hp1 HG03471.hp2 |
a0001a0003 | a0001c0009a0003c0008 | a0001c0009t0001a0003c0008t0001 | a0001c0009t0001g0258 a0001c0009t0001g0260 a0003c0008t0001g0064 |
3 | 302 | 0.0099 | -6 | c.-19 others(17): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1908 | chr1 | TogoVar | |||||||
SHCBP1_chr16_46573591_46626379 | 46578230 | GAGGGGA | G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 |
3 | 184 | 0.0163 | -6 | c.*34 others(17): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 360 | chr16 | TogoVar | |||||||
SHCBP1_chr16_46573591_46626379 | 46578284 | GAGGGGA | G | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 |
3 | 184 | 0.0163 | -6 | c.*34 others(17): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 306 | chr16 | TogoVar | |||||||
SHCBP1_chr16_46573591_46626379 | 46584299 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(122): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(110): Show |
125 | 184 | 0.6794 | -6 | c.146 others(23): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 10/12 | chr16 | TogoVar |