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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRSF6_chr20_43452896_43469243 | 43461334 | G | GTTTTTTT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0002 | 1 | 464 | 0.0022 | 14 | c.*27 others(23): 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(7): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 464 | 0.0022 | 14 | c.*58 others(25): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 2662 | chr20 | TogoVar | |||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG02451.hp2 HG03927.hp2 others(7): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0010a0001c0001t0065a0001c0011t0050 | a0001c0001t0010g0000 a0001c0001t0065g0000 a0001c0011t0050g0000 |
10 | 402 | 0.0249 | 14 | c.*22 others(25): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0144 | 1 | 422 | 0.0024 | 14 | c.*21 others(25): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62150633 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 316 | 0.0032 | 14 | c.69+ others(29): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62159706 | C | CCTGCTGG others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0282 | 1 | 316 | 0.0032 | 14 | c.147 others(29): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62167034 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0232 | 1 | 316 | 0.0032 | 14 | c.916 others(31): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62167038 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 316 | 0.0032 | 14 | c.916 others(31): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62167038 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG04228.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0257 others(3): Show |
6 | 316 | 0.0190 | 14 | c.916 others(31): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62183065 | C | CGGGAGCG others(7): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0006a0002c0003t0005 | a0001c0004t0006g0297 a0002c0003t0005g0185 |
2 | 316 | 0.0063 | 14 | c.*38 others(25): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 552 | chr20 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26065800 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG01256.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 others(27): Show |
30 | 318 | 0.0943 | 14 | c.232 others(31): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26066600 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0112 a0001c0001t0004g0078 a0001c0001t0004g0305 others(4): Show |
7 | 318 | 0.0220 | 14 | c.232 others(31): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445136 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 206 | 0.0049 | 14 | c.802 others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445138 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02056.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 a0001c0002t0001g0121 a0001c0002t0001g0131 |
3 | 206 | 0.0146 | 14 | c.802 others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 206 | 0.0049 | 14 | c.432 others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501212 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0048 | a0001c0002t0001g0103 a0001c0002t0048g0172 |
2 | 206 | 0.0097 | 14 | c.373 others(33): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0005g0160 a0001c0001t0006g0137 a0001c0001t0009g0015 others(8): Show |
11 | 206 | 0.0534 | 14 | c.283 others(33): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81736143 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 206 | 0.0049 | 14 | c.62+ others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54235448 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03239.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0018 | a0001c0001t0003g0190 a0001c0001t0005g0079 a0001c0001t0005g0143 others(1): Show |
4 | 280 | 0.0143 | 14 | c.927 others(31): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240047 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016 | 1 | 280 | 0.0036 | 14 | c.856 others(29): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54289047 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0276 | 1 | 280 | 0.0036 | 14 | c.277 others(31): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01257.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0003g0170 others(6): Show |
9 | 280 | 0.0321 | 14 | c.277 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54303378 | C | CCAGGGGG others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0118 others(12): Show |
15 | 280 | 0.0536 | 14 | c.277 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54337485 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03017.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0185 a0001c0001t0014g0084 |
2 | 280 | 0.0071 | 14 | c.277 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0025 | a0001c0001t0002g0019 a0001c0005t0025g0122 |
2 | 280 | 0.0071 | 14 | c.276 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54396193 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0131 a0001c0001t0002g0113 a0001c0001t0002g0121 others(4): Show |
7 | 280 | 0.0250 | 14 | c.276 others(31): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169814468 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(126): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): Show |
129 | 426 | 0.3028 | 14 | c.*27 others(25): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 2405 | chr2 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169814472 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 426 | 0.0024 | 14 | c.*27 others(25): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 2409 | chr2 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76394748 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0280 a0001c0005t0001g0281 |
2 | 388 | 0.0052 | 14 | c.946 others(29): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01928.hp2 HG02809.hp2 others(3): Show |
a0001a0004a0017 | a0001c0001a0004c0011a0017c0023 | a0001c0001t0001a0004c0011t0001a0017c0023t0001 | a0001c0001t0001g0036 a0001c0001t0001g0169 a0001c0001t0001g0240 others(2): Show |
6 | 388 | 0.0155 | 14 | c.-66 others(29): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTTTATAT others(7): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0103 | 1 | 388 | 0.0026 | 14 | c.-66 others(29): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405339 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18990.hp1 NA19085.hp2 |
a0001a0017 | a0001c0004a0017c0023 | a0001c0004t0001a0017c0023t0001 | a0001c0004t0001g0284 a0001c0004t0001g0304 a0017c0023t0001g0305 |
3 | 388 | 0.0077 | 14 | c.-66 others(29): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495216 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03492.hp1 NA19009.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0018others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0018t0002others(1): Show | a0001c0001t0001g0226 a0002c0002t0002g0185 a0002c0002t0002g0189 others(3): Show |
6 | 412 | 0.0146 | 14 | c.138 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0127 | 1 | 412 | 0.0024 | 14 | c.138 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp1 |
a0023a0031 | a0023c0101a0031c0066 | a0023c0101t0001a0031c0066t0001 | a0023c0101t0001g0333 a0031c0066t0001g0286 |
2 | 412 | 0.0049 | 14 | c.138 others(31): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55522134 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01081.hp2 others(1): Show |
a0002 | a0002c0002a0002c0003a0002c0111 | a0002c0002t0002a0002c0003t0002a0002c0111t0002 | a0002c0002t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0041 others(1): Show |
4 | 412 | 0.0097 | 14 | c.*31 others(25): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 3036 | chr19 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29708993 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 232 | 0.0043 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATAGA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG03669.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0004 | a0001c0001t0001g0072 a0001c0001t0002g0019 a0003c0004t0004g0121 |
3 | 232 | 0.0129 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0030 a0003c0004t0004g0119 |
2 | 232 | 0.0086 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01256.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0032 |
2 | 232 | 0.0086 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 232 | 0.0043 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0073 |
2 | 232 | 0.0086 | 14 | c.189 others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29761843 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG03453.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0005c0007t0014 | a0001c0001t0003g0108 a0005c0007t0014g0111 a0005c0007t0014g0112 |
3 | 232 | 0.0129 | 14 | c.188 others(33): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAATTA others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 232 | 0.0086 | 14 | c.63+ others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 a0001c0001t0003g0100 |
2 | 232 | 0.0086 | 14 | c.63+ others(31): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26204514 | T | TTCTGATG others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0173 a0001c0001t0002g0004 a0001c0001t0002g0012 others(205): Show |
235 | 384 | 0.6120 | 14 | c.279 others(31): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SSPN_chr12_26190573_26239777 | 26218322 | T | TGGGGGGA others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0007 | a0004c0007t0031 | a0004c0007t0031g0304 | 1 | 384 | 0.0026 | 14 | c.280 others(31): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SSR4_chrX_153789668_153803499 | 153803254 | C | CTCTGCGC others(7): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 309 | 0.0032 | 14 | c.*48 others(25): Show |
SSR4 | ENSG00000180879.14 | transcript | ENST00000370086.8 | protein_coding | 4756 | chrX | TogoVar | |||||||
SSTR1_chr14_38202904_38218067 | 38213114 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01123.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0007g0001 others(2): Show |
24 | 456 | 0.0526 | 14 | c.*25 others(25): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 48 | chr14 | TogoVar | |||||||
SSTR2_chr17_73160010_73181633 | 73164123 | G | GGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG02080.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0005g0003 others(10): Show |
14 | 454 | 0.0308 | 14 | c.-12 others(25): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 886 | chr17 | TogoVar |