regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPTIN9_chr17_77314518_77505593 | 77484910 | A | ATGTGGGT others(35): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01346.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0090a0001c0001t0001g0113others(19): Show | 22 | 158 | 0.1392 | 42 | c.860 others(59): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERAC1_chr6_158104519_158173262 | 158169445 | A | AATATGTA others(35): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 366 | 0.0027 | 42 | c.-13 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1184 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169507 | T | TTGTATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 366 | 0.0027 | 42 | c.-14 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1246 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169564 | A | AATATACA others(35): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 366 | 0.0027 | 42 | c.-14 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1303 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169745 | T | TTGTATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 NA18971.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0110 | 3 | 366 | 0.0082 | 42 | c.-16 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1484 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169766 | A | ATATATTA others(35): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183a0001c0001t0001g0184 | 2 | 366 | 0.0055 | 42 | c.-16 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1505 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169772 | A | AATATATT others(35): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 366 | 0.0027 | 42 | c.-16 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1511 | chr6 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169772 | A | AATATATT others(35): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 366 | 0.0027 | 42 | c.-16 others(53): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1511 | chr6 | TogoVar | ||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(35): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0234 | 1 | 368 | 0.0027 | 42 | c.*92 others(53): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | ||||||
SERINC5_chr5_80133727_80261048 | 80181414 | T | TATTGTGT others(35): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 286 | 0.0035 | 42 | c.196 others(59): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63559040 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 402 | 0.0025 | 42 | c.304 others(57): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERTM1_chr13_36669020_36702839 | 36678679 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018 | a0001c0001t0012g0132a0001c0001t0018g0083 | 2 | 438 | 0.0046 | 42 | c.-17 others(61): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SEZ6_chr17_28949905_29011033 | 28952999 | G | GACAAGTC others(35): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 300 | 0.0033 | 42 | c.*29 others(53): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 1905 | chr17 | TogoVar | ||||||
SF3B2_chr11_66047364_66074308 | 66072837 | A | ATTTTTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 394 | 0.0025 | 42 | c.*40 others(53): Show |
SF3B2 | ENSG00000087365.16 | transcript | ENST00000322535.11 | protein_coding | 3530 | chr11 | TogoVar | ||||||
SF3B3_chr16_70518816_70582668 | 70532357 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 342 | 0.0029 | 42 | c.571 others(57): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31562983 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0006a0011c0010t0001g0007 | 2 | 322 | 0.0062 | 42 | c.765 others(59): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFRP1_chr8_41256962_41314473 | 41303084 | G | GAAAATAA others(35): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 384 | 0.0026 | 42 | c.622 others(57): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131783792 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 318 | 0.0031 | 42 | c.240 others(61): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SFSWAP_chr12_131706090_131804738 | 131783821 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 318 | 0.0031 | 42 | c.240 others(61): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SFXN5_chr2_72937036_73076712 | 73047251 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 250 | 0.0040 | 42 | c.172 others(59): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156350247 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01981.hp2 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0023 | a0001c0002t0002g0098a0001c0002t0008g0115a0001c0002t0023g0071 | 3 | 150 | 0.0200 | 42 | c.192 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156640433 | T | TAAATAAA others(35): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(6): Show | a0001c0001t0001g0015a0001c0001t0003g0125a0001c0001t0030g0135others(6): Show | 9 | 150 | 0.0600 | 42 | c.503 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 6/8 | chr5 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23275120 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0218 | 1 | 354 | 0.0028 | 42 | c.386 others(59): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14645478 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0038a0001c0001t0054others(3): Show | a0001c0001t0014g0024a0001c0001t0038g0023a0001c0001t0054g0058others(3): Show | 6 | 102 | 0.0588 | 42 | c.40- others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630813 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0249 | 1 | 302 | 0.0033 | 42 | c.75- others(57): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66630817 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0150 | 1 | 302 | 0.0033 | 42 | c.75- others(57): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66660011 | A | AAGAAGAA others(35): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0039 | 1 | 302 | 0.0033 | 42 | c.460 others(57): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | chr1 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18965.hp1 NA19058.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0015a0001c0001t0003g0215a0001c0001t0003g0217others(3): Show | 6 | 312 | 0.0192 | 42 | c.-58 others(63): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200578150 | C | CTATAGAT others(35): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18747.hp1 NA18963.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0011t0001 | a0001c0001t0001g0242a0001c0001t0001g0251a0001c0002t0001g0276others(3): Show | 6 | 384 | 0.0156 | 42 | c.378 others(61): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2338774 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(13): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(13): Show | 16 | 422 | 0.0379 | 42 | c.57+ others(57): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SH2D1B_chr1_162390268_162417136 | 162416448 | G | GAAAGAAA others(35): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0190 | 1 | 424 | 0.0024 | 42 | c.-44 others(53): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4313 | chr1 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282344 | A | ACCGGGAC others(35): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 42 | c.*12 others(53): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 823 | chr1 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282358 | T | TGGGGCCG others(35): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 42 | c.*12 others(53): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 837 | chr1 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235010769 | G | GAACCCTT others(35): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(14): Show | a0001c0002t0001g0061a0001c0002t0001g0074a0001c0002t0001g0080others(80): Show | 83 | 348 | 0.2385 | 42 | c.-13 others(63): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103801542 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0072a0001c0001t0029g0075 | 2 | 250 | 0.0080 | 42 | c.73- others(55): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109458572 | C | CAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG01071.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0071a0001c0001t0021g0028 | 2 | 172 | 0.0116 | 42 | c.214 others(61): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3TC1_chr4_8194290_8246103 | 8211427 | C | CTCTCCCT others(35): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 374 | 0.0027 | 42 | c.248 others(59): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SH3TC1_chr4_8194290_8246103 | 8211447 | G | GCCCCCGC others(35): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0352 | 1 | 374 | 0.0027 | 42 | c.248 others(59): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(35): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0191 | 1 | 316 | 0.0032 | 42 | c.196 others(61): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | ||||||
SHC4_chr15_48818741_48968919 | 48907840 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0087a0001c0001t0001g0183a0001c0001t0005g0024 | 3 | 384 | 0.0078 | 42 | c.657 others(61): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
SHC4_chr15_48818741_48968919 | 48907840 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 384 | 0.0026 | 42 | c.657 others(61): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02630.hp2 NA18975.hp2 others(3): Show |
a0001 | a0001c0076a0001c0077a0001c0099others(3): Show | a0001c0076t0019a0001c0077t0001a0001c0099t0008others(3): Show | a0001c0076t0019g0336a0001c0077t0001g0360a0001c0099t0008g0107others(3): Show | 6 | 380 | 0.0158 | 42 | c.600 others(61): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0147 | 1 | 380 | 0.0026 | 42 | c.-58 others(51): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106624 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0038 | 1 | 380 | 0.0026 | 42 | c.-60 others(51): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 205 | chr3 | TogoVar | ||||||
SHPK_chr17_3603240_3641250 | 3635236 | A | AGGAAGGA others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0253 | 1 | 382 | 0.0026 | 42 | c.168 others(57): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
SHPK_chr17_3603240_3641250 | 3635236 | A | AGGAAGGA others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01168.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0353a0001c0001t0003g0349a0001c0001t0003g0350others(2): Show | 5 | 382 | 0.0131 | 42 | c.168 others(57): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
SHQ1_chr3_72744277_72853445 | 72765557 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 222 | 0.0045 | 42 | c.118 others(63): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823155 | T | TCTCCTTC others(35): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 256 | 0.0039 | 42 | c.165 others(61): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(35): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0216 | 1 | 218 | 0.0046 | 42 | c.324 others(61): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(35): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03490.hp1 |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0008a0011c0012t0006 | a0001c0001t0008g0198a0011c0012t0006g0046 | 2 | 218 | 0.0092 | 42 | c.324 others(61): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |