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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRPK1_chr6_35827966_35926098 | 35830704 | G | GTGTGTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0326 | 1 | 136 | 0.0074 | 22 | c.*45 others(33): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2261 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35838977 | C | CTGGCAAG others(15): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 | 1 | 340 | 0.0029 | 22 | c.169 others(39): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 14/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105159448 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 153 | 0.0065 | 22 | c.621 others(39): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105166917 | C | CGCCACCT others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 280 | 0.0036 | 22 | c.514 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 6/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105168745 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0234 others(6): Show |
9 | 75 | 0.1200 | 22 | c.338 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170819 | G | GAAAGGAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 277 | 0.0036 | 22 | c.230 others(39): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105247531 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0281 a0001c0001t0002g0258 |
2 | 66 | 0.0303 | 22 | c.72- others(39): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19057.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0038 a0001c0001t0003g0055 a0001c0001t0007g0263 others(1): Show |
4 | 18 | 0.2222 | 22 | c.164 others(39): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 115 | 0.0087 | 22 | c.-28 others(33): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24652029 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02145.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0237 others(1): Show |
4 | 76 | 0.0526 | 22 | c.726 others(37): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76236005 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 117 | 0.0085 | 22 | c.233 others(37): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119117596 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0131 | 1 | 245 | 0.0041 | 22 | c.437 others(37): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(15): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 286 | 0.0070 | 22 | c.-27 others(33): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36596574 | C | CGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 67 | 0.0149 | 22 | c.-2- others(35): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36596581 | G | GGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 377 | 0.0027 | 22 | c.-2- others(35): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF6_chr20_43452896_43469243 | 43461334 | G | GTTTTTTT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 306 | 0.0033 | 22 | c.*27 others(31): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 274 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRSF6_chr20_43452896_43469243 | 43466904 | G | GGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 113 | 0.0088 | 22 | c.*58 others(33): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 2662 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0048 | 2 | 12 | 0.1667 | 22 | c.*21 others(33): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62163701 | T | TCGGGGAG others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 304 | 0.0033 | 22 | c.721 others(37): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26065800 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00735.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0124 others(32): Show |
36 | 43 | 0.8372 | 22 | c.232 others(39): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81415922 | A | AAAAAAAA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0005g0045 a0001c0001t0005g0145 a0001c0001t0005g0159 others(13): Show |
16 | 86 | 0.1860 | 22 | c.*45 others(33): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 17/17 | 4581 | chr5 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0073 | a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 others(1): Show |
4 | 79 | 0.0506 | 22 | c.283 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 others(20): Show |
23 | 77 | 0.2987 | 22 | c.277 others(41): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0028 a0001c0001t0005g0027 a0001c0001t0008g0254 |
3 | 78 | 0.0385 | 22 | c.276 others(41): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54396193 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0042 | 1 | 97 | 0.0103 | 22 | c.276 others(39): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 9 | 0.1111 | 22 | c.-9- others(35): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76405339 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0008 a0001c0005t0001g0285 a0001c0005t0001g0286 others(7): Show |
14 | 325 | 0.0431 | 22 | c.-66 others(37): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 NA18982.hp2 others(1): Show |
a0001a0003a0042 | a0001c0001a0003c0007a0042c0073 | a0001c0001t0001a0003c0007t0002a0042c0073t0001 | a0001c0001t0001g0031 a0001c0001t0001g0040 a0003c0007t0002g0127 others(1): Show |
4 | 193 | 0.0207 | 22 | c.138 others(39): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 1 | 190 | 0.0053 | 22 | c.138 others(39): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0005 | a0005c0056 | a0005c0056t0001 | a0005c0056t0001g0066 | 1 | 190 | 0.0053 | 22 | c.138 others(39): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 128 | 0.0078 | 22 | c.189 others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0008 | 1 | 128 | 0.0078 | 22 | c.189 others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895546 | A | AATGTATT others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 a0001c0001t0015g0008 |
2 | 228 | 0.0088 | 22 | c.63+ others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895666 | A | AATGTATT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0006 | 1 | 198 | 0.0051 | 22 | c.63+ others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895706 | A | AATGTATT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01884.hp1 others(6): Show |
a0001a0005a0014 | a0001c0001a0001c0019a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0001g0083 others(6): Show |
9 | 145 | 0.0621 | 22 | c.63+ others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSNA1_chr9_137183676_137195366 | 137195120 | A | AGCCCCGC others(15): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 22 | c.*52 others(33): Show |
SSNA1 | ENSG00000176101.12 | transcript | ENST00000322310.10 | protein_coding | 4755 | chr9 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26233355 | T | TATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0048 | a0002c0003t0048g0177 | 1 | 297 | 0.0034 | 22 | c.*22 others(33): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3/3 | 2281 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSR4_chrX_153789668_153803499 | 153794427 | T | TGCGCACG others(15): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 5 | 307 | 0.0163 | 22 | c.-26 others(31): Show |
SSR4 | ENSG00000180879.14 | transcript | ENST00000370086.8 | protein_coding | 240 | chrX | TogoVar | |||||||
SSTR2_chr17_73160010_73181633 | 73171921 | C | CAAAAAAA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0153 | a0001c0001t0153g0006 | 1 | 76 | 0.0132 | 22 | c.*15 others(33): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 2/2 | 1529 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SSU72L6_chr7_124471317_124482664 | 124479016 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02698.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 286 | 0.0105 | 22 | c.*20 others(33): Show |
SSU72L6 | ENSG00000230268.4 | transcript | ENST00000473520.2 | protein_coding | 1353 | chr7 | TogoVar | |||||||
SSUH2_chr3_8614386_8649798 | 8629633 | C | CTGACTCA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(149): Show |
a0001a0007a0009 | a0001c0001a0007c0012a0009c0011 | a0001c0001t0001a0007c0012t0001a0009c0011t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
152 | 454 | 0.3348 | 22 | c.588 others(34): Show |
SSUH2 | ENSG00000125046.16 | transcript | ENST00000544814.7 | protein_coding | 7/11 | chr3 | TogoVar | |||||||
SSX4B_chrX_48397082_48416960 | 48413987 | G | GGAAGGGA others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02074.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0026 |
4 | 132 | 0.0303 | 22 | c.-21 others(33): Show |
SSX4B | ENSG00000269791.6 | transcript | ENST00000595235.6 | protein_coding | 2028 | chrX | TogoVar | |||||||
SSX4_chrX_48378539_48398347 | 48381425 | C | CTTCCCTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0011 |
2 | 102 | 0.0196 | 22 | c.-21 others(33): Show |
SSX4 | ENSG00000268009.6 | transcript | ENST00000595689.3 | protein_coding | 2113 | chrX | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40820663 | T | TAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 145 | 0.0069 | 22 | c.*58 others(33): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 3871 | chr22 | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40821794 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 336 | 0.0030 | 22 | c.*47 others(33): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 2740 | chr22 | TogoVar | |||||||
ST18_chr8_52105838_52414756 | 52367234 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0002g0014 others(2): Show |
5 | 57 | 0.0877 | 22 | c.-46 others(43): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar | |||||||
ST18_chr8_52105838_52414756 | 52367236 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 7 | 0.1429 | 22 | c.-46 others(43): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar | |||||||
ST3GAL1_chr8_133449848_133576887 | 133540922 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03942.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0004t0078 | a0001c0001t0001g0192 a0001c0001t0014g0303 a0001c0004t0078g0323 |
3 | 188 | 0.0160 | 22 | c.-42 others(41): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
ST3GAL1_chr8_133449848_133576887 | 133540924 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19088.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0214 a0001c0004t0003g0217 |
2 | 296 | 0.0068 | 22 | c.-42 others(41): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
ST3GAL1_chr8_133449848_133576887 | 133540934 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0011 | a0001c0011t0081 | a0001c0011t0081g0314 | 1 | 253 | 0.0040 | 22 | c.-42 others(41): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar |