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 | 35913969 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(61): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0230 a0001c0002t0002g0235 others(60): Show |
64 | 246 | 0.2602 | 5 | c.74+ others(20): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35915991 | A | AAAAAT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01099.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0246 a0001c0002t0002g0247 others(8): Show |
12 | 302 | 0.0397 | 5 | c.74+ others(20): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35917061 | A | AAAAAC | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(164): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0046 others(163): Show |
167 | 340 | 0.4912 | 5 | c.74+ others(20): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105292497 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0232 a0001c0001t0001g0238 others(5): Show |
8 | 87 | 0.0920 | 5 | c.72- others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105294512 | T | TTTTTG | intron_variant | MODIFIER | HG01891.hp1 HG03834.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0173 a0001c0001t0001g0191 |
3 | 89 | 0.0337 | 5 | c.72- others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105312437 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
7 | 147 | 0.0476 | 5 | c.71+ others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105331308 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01069.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0085 others(7): Show |
10 | 48 | 0.2083 | 5 | c.71+ others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105341357 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0052 others(6): Show |
9 | 78 | 0.1154 | 5 | c.71+ others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105349522 | C | CAAAAA | intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 NA18955.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(7): Show |
10 | 193 | 0.0518 | 5 | c.71+ others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105383052 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(12): Show |
15 | 34 | 0.4412 | 5 | c.71+ others(20): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105385171 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 others(3): Show |
6 | 125 | 0.0480 | 5 | c.71+ others(20): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTT | intron_variant | MODIFIER | HG01975.hp1 HG02257.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0148 a0001c0001t0009g0078 a0001c0001t0009g0079 others(3): Show |
6 | 20 | 0.3000 | 5 | c.164 others(22): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRPX2_chrX_100639199_100680788 | 100669769 | C | CTTTTT | intron_variant | MODIFIER | HG02027.hp1 HG02148.hp1 HG03492.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0166 others(6): Show |
9 | 22 | 0.4091 | 5 | c.121 others(22): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRRD_chr22_26478877_26499658 | 26490559 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0004a0001c0003t0009others(2): Show | a0001c0001t0001g0096 a0001c0003t0004g0010 a0001c0003t0004g0032 others(4): Show |
18 | 75 | 0.2400 | 5 | c.764 others(20): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24658208 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02257.hp1 others(22): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(19): Show |
25 | 304 | 0.0822 | 5 | c.131 others(24): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76198049 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02027.hp1 HG02040.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0293 a0001c0001t0001g0304 a0002c0002t0001g0299 others(7): Show |
10 | 148 | 0.0676 | 5 | c.-40 others(16): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 3846 | chr7 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76223820 | G | GCCTTC | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02148.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0019 | a0001c0001t0001a0001c0001t0003a0001c0004t0009others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0274 others(6): Show |
9 | 77 | 0.1169 | 5 | c.-39 others(24): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76277740 | G | GAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG02723.hp1 HG03041.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 others(6): Show |
9 | 321 | 0.0280 | 5 | c.100 others(24): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76290678 | C | CTTTTA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
109 | 322 | 0.3385 | 5 | c.*48 others(16): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 3392 | chr7 | TogoVar | |||||||
SRRM4_chr12_118976541_119168051 | 118998268 | C | CAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG01993.hp1 HG02004.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0023others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(11): Show | a0001c0001t0001g0034 a0001c0001t0006g0160 a0001c0001t0011g0163 others(11): Show |
14 | 97 | 0.1443 | 5 | c.131 others(24): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119040182 | C | CTTTTA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01123.hp1 others(55): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0109 others(54): Show |
58 | 324 | 0.1790 | 5 | c.131 others(24): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119100327 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02257.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0014others(5): Show | a0001c0001t0005g0129 a0001c0001t0012g0072 a0001c0001t0012g0123 others(7): Show |
10 | 114 | 0.0877 | 5 | c.132 others(22): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119127736 | A | AAAAAG | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00741.hp2 others(31): Show |
a0001a0002a0008 | a0001c0001a0001c0011a0001c0019others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0253 others(31): Show |
34 | 144 | 0.2361 | 5 | c.614 others(22): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRT_chr7_100870103_100893664 | 100878905 | C | CTTTCT | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01261.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0002g0004 a0001c0001t0002g0027 others(6): Show |
24 | 417 | 0.0576 | 5 | c.123 others(22): Show |
SRRT | ENSG00000087087.20 | transcript | ENST00000611405.5 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRT_chr7_100870103_100893664 | 100889724 | G | GCGCCC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00738.hp1 others(61): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0026 others(25): Show |
64 | 403 | 0.1588 | 5 | c.*11 others(16): Show |
SRRT | ENSG00000087087.20 | transcript | ENST00000611405.5 | protein_coding | 1061 | chr7 | TogoVar | |||||||
SRSF10_chr1_23959347_23985327 | 23970363 | G | GTTTTT | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01993.hp1 HG03225.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0051a0001c0001t0052 | a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0068 others(3): Show |
8 | 12 | 0.6667 | 5 | c.*77 others(14): Show |
SRSF10 | ENSG00000188529.15 | transcript | ENST00000492112.3 | protein_coding | 6/6 | 778 | chr1 | TogoVar | ||||||
SRSF10_chr1_23959347_23985327 | 23979057 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(19): Show |
60 | 131 | 0.4580 | 5 | c.66- others(18): Show |
SRSF10 | ENSG00000188529.15 | transcript | ENST00000492112.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89092223 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01261.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0021 | a0001c0001t0006g0009 a0001c0001t0006g0036 a0001c0001t0006g0100 others(4): Show |
18 | 255 | 0.0706 | 5 | c.*63 others(16): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 3735 | chr6 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89093907 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0025 others(1): Show |
8 | 217 | 0.0369 | 5 | c.*46 others(16): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 2051 | chr6 | TogoVar | |||||||
SRSF1_chr17_57995919_58012246 | 57996483 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(6): Show |
20 | 164 | 0.1220 | 5 | c.*89 others(16): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4435 | chr17 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36592057 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(82): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(11): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(59): Show |
85 | 215 | 0.3953 | 5 | c.-24 others(16): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 2304 | chr6 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36601001 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp2 HG02056.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0003t0002 | a0001c0001t0002g0007 a0001c0001t0002g0037 a0001c0001t0002g0104 others(7): Show |
16 | 159 | 0.1006 | 5 | c.342 others(20): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF4_chr1_29142743_29186900 | 29159108 | A | ACAAAC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(183): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(166): Show |
186 | 337 | 0.5519 | 5 | c.363 others(20): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
SRSF4_chr1_29142743_29186900 | 29175694 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01123.hp1 others(9): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0002a0009c0007t0002 | a0001c0001t0002g0009 a0001c0001t0002g0032 a0001c0001t0002g0033 others(8): Show |
12 | 101 | 0.1188 | 5 | c.107 others(22): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43456862 | C | CTTCCT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00735.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(36): Show |
93 | 427 | 0.2178 | 5 | c.-11 others(16): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 1033 | chr20 | TogoVar | |||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0019a0001c0001t0020others(4): Show | a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 others(4): Show |
15 | 18 | 0.8333 | 5 | c.*23 others(16): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01070.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show |
12 | 57 | 0.2105 | 5 | c.69+ others(20): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62150633 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG02056.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(6): Show |
9 | 16 | 0.5625 | 5 | c.69+ others(20): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62160304 | G | GAGAGA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0003a0003c0008t0002 | a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0221 others(27): Show |
30 | 314 | 0.0955 | 5 | c.231 others(20): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62160384 | G | GGGAGA | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014a0001c0002t0023others(2): Show | a0001c0002t0004g0032 a0001c0002t0004g0263 a0001c0002t0004g0264 others(11): Show |
14 | 305 | 0.0459 | 5 | c.231 others(20): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62176798 | A | AAAAAG | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(124): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(21): Show | a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0142 others(119): Show |
127 | 314 | 0.4045 | 5 | c.116 others(24): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L2_chr3_42585860_42601934 | 42591201 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00639.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0010 a0001c0001t0003g0005 a0001c0001t0003g0007 others(12): Show |
70 | 235 | 0.2979 | 5 | c.69+ others(18): Show |
SS18L2 | ENSG00000008324.12 | transcript | ENST00000011691.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26041430 | C | CCAAAA | intron_variant | MODIFIER | HG01167.hp2 HG02647.hp1 HG02809.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0100 others(3): Show |
6 | 316 | 0.0190 | 5 | c.608 others(22): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26060771 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0206 a0001c0001t0001g0253 others(3): Show |
6 | 20 | 0.3000 | 5 | c.232 others(22): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP1_chr7_141733358_141755488 | 141737814 | C | CTTGTT | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01981.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0023 |
14 | 422 | 0.0332 | 5 | c.-64 others(14): Show |
SSBP1 | ENSG00000106028.11 | transcript | ENST00000265304.11 | protein_coding | 543 | chr7 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81455625 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013a0001c0002t0032others(2): Show | a0001c0002t0010g0113 a0001c0002t0013g0008 a0001c0002t0032g0099 others(3): Show |
6 | 169 | 0.0355 | 5 | c.711 others(22): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 10/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81681596 | T | TATAGC | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0149 a0001c0001t0002g0201 a0001c0001t0002g0202 others(13): Show |
16 | 204 | 0.0784 | 5 | c.63- others(22): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81686868 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0054a0001c0002t0001 | a0001c0001t0008g0130 a0001c0001t0054g0012 a0001c0002t0001g0088 others(2): Show |
5 | 147 | 0.0340 | 5 | c.63- others(22): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240121 | C | CGCGCA | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0106 a0001c0001t0003g0178 others(6): Show |
9 | 138 | 0.0652 | 5 | c.856 others(20): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54294159 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 NA18906.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0002g0020 a0001c0001t0007g0222 a0001c0001t0008g0248 others(7): Show |
10 | 247 | 0.0405 | 5 | c.277 others(24): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar |