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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRRM2_chr16_2747638_2776412 | 2753067 | CGTTCGCA others(15): Show |
C | intron_variant | MODIFIER | NA18973.hp1 NA19000.hp1 NA19060.hp1 others(1): Show |
a0001a0020 | a0001c0002a0020c0067 | a0001c0002t0003a0020c0067t0003 | a0001c0002t0003g0025a0001c0002t0003g0069a0020c0067t0003g0025 | 4 | 402 | 0.0100 | -22 | c.-32 others(37): Show |
SRRM2 | ENSG00000167978.19 | transcript | ENST00000301740.13 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SRRM4_chr12_118976541_119168051 | 119137587 | GGAGAGAG others(15): Show |
G | intron_variant | MODIFIER | NA18955.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0093a0001c0001t0013g0094 | 2 | 328 | 0.0061 | -22 | c.771 others(39): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRRM5_chr19_43607088_43619498 | 43607374 | CACACACA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | -22 | c.-47 others(33): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 4713 | chr19 | TogoVar | ||||||
SRSF11_chr1_70216380_70258052 | 70243336 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 338 | 0.0059 | -22 | c.801 others(39): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRSF12_chr6_89090959_89123071 | 89099408 | ATATATAC others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0128 | 1 | 376 | 0.0027 | -22 | c.417 others(37): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62163701 | TCGGGGAG others(15): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0001g0132a0001c0001t0002g0183others(6): Show | 9 | 316 | 0.0285 | -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 | 26060771 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0237 | 2 | 318 | 0.0063 | -22 | c.232 others(39): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81488010 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0206 | 1 | 206 | 0.0049 | -22 | c.432 others(39): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81501212 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0016a0001c0002t0020 | a0001c0001t0041g0084a0001c0002t0016g0047a0001c0002t0020g0188 | 3 | 206 | 0.0146 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81501248 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0054 | 1 | 206 | 0.0049 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81501250 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 206 | 0.0049 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54252518 | CGGGACAG others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(169): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0042a0001c0001t0001g0062a0001c0001t0001g0096others(169): Show | 172 | 280 | 0.6143 | -22 | c.508 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 7/17 | chr1 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54316659 | ATAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0131a0001c0001t0002g0030a0001c0001t0002g0087others(8): Show | 11 | 280 | 0.0393 | -22 | c.277 others(41): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
SSBP4_chr19_18414398_18439562 | 18429083 | AGGGCGGA others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 3 | 302 | 0.0099 | -22 | c.279 others(39): Show |
SSBP4 | ENSG00000130511.16 | transcript | ENST00000270061.12 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55506373 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0147 | 1 | 412 | 0.0024 | -22 | c.278 others(41): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSH2_chr17_29620938_29935228 | 29638509 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 232 | 0.0043 | -22 | c.142 others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29725279 | CGAGGTTG others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0143a0001c0001t0001g0184a0001c0001t0001g0214others(90): Show | 93 | 232 | 0.4009 | -22 | c.189 others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29851140 | ACTCGTAT others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 |
a0005 | a0005c0007 | a0005c0007t0014 | a0005c0007t0014g0111a0005c0007t0014g0112 | 2 | 232 | 0.0086 | -22 | c.64- others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29895746 | AATGTATT others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 232 | 0.0043 | -22 | c.63+ others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
SSNA1_chr9_137183676_137195366 | 137194802 | TGACTCAT others(15): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -22 | c.*48 others(33): Show |
SSNA1 | ENSG00000176101.12 | transcript | ENST00000322310.10 | protein_coding | 4437 | chr9 | TogoVar | ||||||
SSU72L3_chr11_4324790_4335864 | 4326260 | TCAGGATG others(15): Show |
T | upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 340 | 0.0029 | -22 | c.-36 others(33): Show |
SSU72L3 | ENSG00000284546.2 | transcript | ENST00000640302.2 | protein_coding | 3529 | chr11 | TogoVar | ||||||
ST14_chr11_130154782_130215362 | 130213949 | GTGTGTGT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG03540.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0195a0002c0004t0001g0196 | 2 | 292 | 0.0069 | -22 | c.*41 others(33): Show |
ST14 | ENSG00000149418.11 | transcript | ENST00000278742.6 | protein_coding | 3588 | chr11 | TogoVar | ||||||
ST18_chr8_52105838_52414756 | 52357676 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | 104 | 0.0192 | -22 | c.-46 others(43): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar | ||||||
ST18_chr8_52105838_52414756 | 52375815 | GCCGCAGG others(15): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG03471.hp1 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0039a0001c0001t0003g0036a0001c0001t0005g0029others(3): Show | 6 | 104 | 0.0577 | -22 | c.-46 others(43): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar | ||||||
ST3GAL1_chr8_133449848_133576887 | 133576571 | AACAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01358.hp1 HG02004.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0041a0001c0002t0002others(8): Show | a0001c0001t0001g0055a0001c0001t0001g0074a0001c0001t0001g0108others(18): Show | 21 | 332 | 0.0633 | -22 | c.-54 others(33): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 4685 | chr8 | TogoVar | ||||||
ST3GAL2_chr16_70370977_70444100 | 70408890 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0001g0163a0001c0001t0001g0215a0001c0001t0001g0246others(34): Show | 37 | 312 | 0.1186 | -22 | c.-10 others(43): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
ST3GAL2_chr16_70370977_70444100 | 70434198 | GGAGGCCG others(15): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0109 | 1 | 312 | 0.0032 | -22 | c.-10 others(43): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43813860 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 274 | 0.0037 | -22 | c.167 others(38): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186926202 | CATATATA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01257.hp2 HG02040.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(15): Show | 18 | 362 | 0.0497 | -22 | c.-49 others(33): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 4323 | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186948528 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0074a0001c0001t0001g0089a0001c0001t0001g0154others(148): Show | 152 | 362 | 0.4199 | -22 | c.-32 others(43): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 187035825 | CATTCTGG others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(174): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0128a0001c0001t0001g0139a0001c0001t0001g0159others(173): Show | 177 | 362 | 0.4890 | -22 | c.-18 others(41): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL2_chr2_106796600_106891167 | 106884914 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0161 | 1 | 372 | 0.0027 | -22 | c.-58 others(39): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ST6GALNAC1_chr17_76619763_76648757 | 76639638 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01243.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0005c0008t0001 | a0001c0001t0001g0195a0001c0001t0002g0331a0005c0008t0001g0221others(2): Show | 5 | 412 | 0.0121 | -22 | c.131 others(39): Show |
ST6GALNAC1 | ENSG00000070526.15 | transcript | ENST00000156626.12 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
ST6GALNAC2_chr17_76560377_76590860 | 76590033 | GTTTTTTT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01943.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0055others(18): Show | 21 | 426 | 0.0493 | -22 | c.-42 others(33): Show |
ST6GALNAC2 | ENSG00000070731.11 | transcript | ENST00000225276.10 | protein_coding | 4174 | chr17 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76108861 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0057others(38): Show | 41 | 102 | 0.4020 | -22 | c.18+ others(39): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST7_chr7_116948501_117235176 | 117214910 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0053others(20): Show | 23 | 188 | 0.1223 | -22 | c.140 others(41): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST8SIA1_chr12_22188391_22339707 | 22338184 | CTGTGTGT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0196 | a0001c0001t0196g0279 | 1 | 282 | 0.0036 | -22 | c.-39 others(33): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 3478 | chr12 | TogoVar | ||||||
ST8SIA6_chr10_17310421_17459595 | 17333672 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0035 | a0001c0001t0001g0033a0001c0001t0001g0127a0001c0001t0001g0160others(12): Show | 15 | 296 | 0.0507 | -22 | c.378 others(39): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103701977 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 NA18941.hp2 others(4): Show |
a0001a0035 | a0001c0001a0001c0036a0001c0112others(1): Show | a0001c0001t0001a0001c0036t0001a0001c0112t0001others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0170a0001c0001t0001g0175others(4): Show | 7 | 256 | 0.0273 | -22 | c.371 others(41): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 34/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
STAB2_chr12_103582273_103771719 | 103748584 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG02129.hp2 NA18747.hp2 NA18944.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0171a0001c0006t0001g0206a0001c0006t0001g0215others(3): Show | 6 | 256 | 0.0234 | -22 | c.624 others(39): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 58/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
STAC_chr3_36375504_36553007 | 36442739 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0139others(3): Show | 6 | 316 | 0.0190 | -22 | c.112 others(37): Show |
STAC | ENSG00000144681.11 | transcript | ENST00000273183.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STAG1_chr3_136331236_136757378 | 136418360 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167a0001c0002t0002g0170a0001c0002t0002g0194 | 3 | 240 | 0.0125 | -22 | c.210 others(39): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 20/33 | chr3 | TogoVar | ||||||
STAG1_chr3_136331236_136757378 | 136439389 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG02135.hp2 NA18747.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0055a0001c0001t0001g0076 | 3 | 240 | 0.0125 | -22 | c.154 others(41): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 15/33 | chr3 | TogoVar | ||||||
STAG1_chr3_136331236_136757378 | 136702109 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG02897.hp2 NA19240.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0086a0001c0002t0005g0182a0001c0002t0005g0237 | 3 | 240 | 0.0125 | -22 | c.-84 others(41): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 1/33 | chr3 | TogoVar | ||||||
STAG1_chr3_136331236_136757378 | 136705628 | TGGTTTTA others(15): Show |
T | intron_variant | MODIFIER | HG01123.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0073 | 2 | 240 | 0.0083 | -22 | c.-84 others(41): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 1/33 | chr3 | TogoVar | ||||||
STAM2_chr2_152111801_152180763 | 152139858 | TAATACAA others(15): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186a0001c0001t0004g0187a0001c0001t0004g0188 | 3 | 360 | 0.0083 | -22 | c.704 others(39): Show |
STAM2 | ENSG00000115145.10 | transcript | ENST00000263904.5 | protein_coding | 7/13 | chr2 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834220 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02683.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0010 | a0001c0001t0011g0337a0001c0003t0010g0050 | 2 | 368 | 0.0054 | -22 | c.203 others(39): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STAMBP_chr2_73823961_73872168 | 73834222 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015a0001c0001t0011g0338 | 3 | 368 | 0.0082 | -22 | c.203 others(39): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STAMBP_chr2_73823961_73872168 | 73834236 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0180a0001c0001t0001g0181others(1): Show | 4 | 368 | 0.0109 | -22 | c.203 others(39): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STAMBP_chr2_73823961_73872168 | 73852917 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0340a0001c0001t0005g0341a0001c0001t0005g0342others(13): Show | 16 | 368 | 0.0435 | -22 | c.100 others(41): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |