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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRRM4_chr12_118976541_119168051 | 119075900 | C | CGATGATG others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02895.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0014 | a0001c0001t0012a0002c0002t0037a0002c0014t0018 | a0001c0001t0012g0072 a0002c0002t0037g0011 a0002c0014t0018g0179 |
3 | 326 | 0.0092 | 9 | c.132 others(28): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119075915 | T | TGGTGATG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00597.hp2 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0034 a0001c0001t0001g0099 a0001c0001t0001g0238 others(102): Show |
105 | 326 | 0.3221 | 9 | c.132 others(28): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119100327 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01106.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0136 others(24): Show |
27 | 131 | 0.2061 | 9 | c.132 others(26): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119106672 | T | TTTGCTAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01123.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0211 others(33): Show |
37 | 326 | 0.1135 | 9 | c.278 others(26): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119127736 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02486.hp2 others(9): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0007a0003c0003t0045a0003c0003t0047others(5): Show | a0003c0003t0007g0069 a0003c0003t0007g0073 a0003c0003t0007g0075 others(9): Show |
12 | 122 | 0.0984 | 9 | c.614 others(26): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRSF1_chr17_57995919_58012246 | 57996483 | T | TTAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0005 a0001c0001t0005g0006 |
10 | 154 | 0.0649 | 9 | c.*89 others(20): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4435 | chr17 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36591069 | G | GACAACAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 |
3 | 267 | 0.0112 | 9 | c.-34 others(20): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 3292 | chr6 | TogoVar | |||||||
SRSF4_chr1_29142743_29186900 | 29175694 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01258.hp2 others(10): Show |
a0003a0004a0008 | a0003c0003a0004c0006a0008c0010 | a0003c0003t0001a0004c0006t0001a0008c0010t0001 | a0003c0003t0001g0029 a0003c0003t0001g0255 a0003c0003t0001g0265 others(9): Show |
13 | 102 | 0.1275 | 9 | c.107 others(26): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43461334 | G | GTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018 | a0001c0001t0015g0001 a0001c0001t0018g0018 |
4 | 309 | 0.0129 | 9 | c.*27 others(18): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 274 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 655173 | C | CAGAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(114): Show |
299 | 420 | 0.7119 | 9 | c.-19 others(20): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 1974 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62167038 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0004a0001c0002t0010a0001c0002t0014others(2): Show | a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 others(6): Show |
9 | 255 | 0.0353 | 9 | c.916 others(26): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81547036 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0004g0082 a0001c0001t0005g0145 a0001c0001t0005g0163 others(4): Show |
7 | 9 | 0.7778 | 9 | c.283 others(28): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54282041 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02257.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0001g0125 others(21): Show |
24 | 193 | 0.1244 | 9 | c.277 others(24): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54307806 | A | AAGTTACC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 others(38): Show |
41 | 278 | 0.1475 | 9 | c.277 others(28): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54337485 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0056 a0001c0001t0001g0134 a0001c0001t0002g0089 others(12): Show |
15 | 77 | 0.1948 | 9 | c.277 others(28): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54384105 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0105 others(20): Show |
23 | 49 | 0.4694 | 9 | c.276 others(28): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03209.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0005 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(3): Show |
6 | 14 | 0.4286 | 9 | c.-9- others(22): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76405965 | C | CTTCCTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(14): Show |
22 | 386 | 0.0570 | 9 | c.-66 others(26): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495234 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01069.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0097others(3): Show | a0001c0006t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0001c0006t0001g0308 a0002c0002t0002g0003 a0002c0002t0002g0097 others(12): Show |
16 | 357 | 0.0448 | 9 | c.138 others(26): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | chr19 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29680551 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001a0003a0013 | a0001c0001a0003c0004a0013c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(2): Show | a0001c0001t0001g0019 a0001c0001t0004g0125 a0001c0001t0004g0131 others(3): Show |
6 | 55 | 0.1091 | 9 | c.480 others(26): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29779810 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01496.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0011a0002c0002t0002others(1): Show | a0001c0001t0002g0142 a0001c0001t0011g0163 a0002c0002t0002g0195 others(3): Show |
6 | 89 | 0.0674 | 9 | c.188 others(28): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29784065 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01255.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0024 | a0002c0002t0002g0159 a0002c0002t0002g0176 a0002c0002t0002g0199 others(3): Show |
6 | 74 | 0.0811 | 9 | c.188 others(26): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02523.hp1 NA18951.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0001a0001c0001t0007a0008c0015t0001 | a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show |
5 | 89 | 0.0562 | 9 | c.63+ others(26): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSTR1_chr14_38202904_38218067 | 38205795 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0002t0009others(1): Show | a0001c0001t0005g0002 a0001c0001t0009g0002 a0001c0002t0009g0002 others(1): Show |
4 | 47 | 0.0851 | 9 | c.-28 others(20): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 2108 | chr14 | TogoVar | |||||||
SSTR1_chr14_38202904_38218067 | 38215932 | A | ACATTATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0010 others(39): Show |
275 | 454 | 0.6057 | 9 | c.*53 others(20): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 2866 | chr14 | TogoVar | |||||||
SSTR2_chr17_73160010_73181633 | 73180667 | C | CTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01106.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0002g0061 others(13): Show |
17 | 134 | 0.1269 | 9 | c.*10 others(22): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 4035 | chr17 | TogoVar | |||||||
SSU72L2_chr11_4236641_4247706 | 4238580 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(124): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0003a0001c0004t0003a0001c0004t0020others(10): Show | a0001c0001t0003g0000 a0001c0004t0003g0000 a0001c0004t0020g0000 others(10): Show |
127 | 148 | 0.8581 | 9 | c.*34 others(20): Show |
SSU72L2 | ENSG00000284306.2 | transcript | ENST00000640805.2 | protein_coding | 3060 | chr11 | TogoVar | |||||||
SSU72L5_chr11_4228217_4239287 | 4238580 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(118): Show |
a0001a0004a0010 | a0001c0001a0001c0008a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0012g0000 others(6): Show |
121 | 141 | 0.8582 | 9 | c.*47 others(20): Show |
SSU72L5 | ENSG00000284018.2 | transcript | ENST00000639584.2 | protein_coding | 4294 | chr11 | TogoVar | |||||||
SSU72L6_chr7_124471317_124482664 | 124479034 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01069.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 |
32 | 247 | 0.1296 | 9 | c.*20 others(20): Show |
SSU72L6 | ENSG00000230268.4 | transcript | ENST00000473520.2 | protein_coding | 1371 | chr7 | TogoVar | |||||||
SSU72_chr1_1536673_1579863 | 1567912 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0041 others(41): Show |
46 | 119 | 0.3866 | 9 | c.81- others(24): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SSX2IP_chr1_84638706_84695461 | 84676719 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03239.hp2 HG04184.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0034 a0001c0002t0002g0189 a0001c0002t0002g0190 others(4): Show |
8 | 21 | 0.3810 | 9 | c.-89 others(26): Show |
SSX2IP | ENSG00000117155.17 | transcript | ENST00000342203.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
SSX7_chrX_52639061_52659900 | 52655660 | T | TTTTATTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 |
4 | 267 | 0.0150 | 9 | c.-92 others(18): Show |
SSX7 | ENSG00000187754.9 | transcript | ENST00000298181.6 | protein_coding | 761 | chrX | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40820579 | A | AGCCAGCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0025 others(15): Show |
36 | 342 | 0.1053 | 9 | c.*59 others(20): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 3955 | chr22 | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40820663 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(11): Show |
18 | 162 | 0.1111 | 9 | c.*58 others(20): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 3871 | chr22 | TogoVar | |||||||
ST14_chr11_130154782_130215362 | 130164718 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0002g0179 others(33): Show |
36 | 180 | 0.2000 | 9 | c.81+ others(24): Show |
ST14 | ENSG00000149418.11 | transcript | ENST00000278742.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ST18_chr8_52105838_52414756 | 52130106 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02280.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0014 a0001c0001t0004g0031 a0001c0001t0011g0040 |
3 | 102 | 0.0294 | 9 | c.266 others(28): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 22/25 | chr8 | TogoVar | |||||||
ST3GAL2_chr16_70370977_70444100 | 70389202 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18941.hp1 NA18992.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0053 a0001c0001t0002g0071 a0001c0001t0002g0079 others(4): Show |
7 | 19 | 0.3684 | 9 | c.534 others(24): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ST3GAL2_chr16_70370977_70444100 | 70410240 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0002g0062 a0001c0001t0006g0093 a0001c0001t0006g0094 others(3): Show |
6 | 97 | 0.0619 | 9 | c.-10 others(32): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43817876 | C | CCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0070 a0001c0001t0001g0072 others(94): Show |
97 | 271 | 0.3579 | 9 | c.209 others(26): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43838114 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0061 others(105): Show |
108 | 140 | 0.7714 | 9 | c.210 others(22): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43882979 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(93): Show |
96 | 167 | 0.5749 | 9 | c.303 others(28): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43918119 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0245 a0001c0001t0001g0257 others(3): Show |
6 | 73 | 0.0822 | 9 | c.745 others(26): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43925296 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(77): Show |
80 | 146 | 0.5479 | 9 | c.103 others(28): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL4_chr11_126350686_126419638 | 126371163 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01070.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0111 others(34): Show |
39 | 101 | 0.3861 | 9 | c.-61 others(28): Show |
ST3GAL4 | ENSG00000110080.20 | transcript | ENST00000444328.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ST3GAL4_chr11_126350686_126419638 | 126390017 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0081 others(6): Show |
9 | 110 | 0.0818 | 9 | c.-60 others(28): Show |
ST3GAL4 | ENSG00000110080.20 | transcript | ENST00000444328.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ST3GAL5_chr2_85832120_85893990 | 85840942 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00673.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0003g0290 a0002c0002t0002g0178 a0002c0002t0002g0203 others(24): Show |
33 | 204 | 0.1618 | 9 | c.100 others(26): Show |
ST3GAL5 | ENSG00000115525.18 | transcript | ENST00000638572.2 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186987200 | G | GAGGGAAG others(2): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03130.hp2 HG03654.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0134 a0001c0001t0002g0307 a0001c0001t0005g0199 others(4): Show |
7 | 215 | 0.0326 | 9 | c.-18 others(30): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186999224 | T | TTAACACC others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0002t0054others(2): Show | a0001c0001t0002g0357 a0001c0001t0003g0138 a0001c0002t0054g0023 others(2): Show |
5 | 360 | 0.0139 | 9 | c.-18 others(30): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 187000585 | T | TCTTGTTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0134 others(55): Show |
58 | 354 | 0.1638 | 9 | c.-18 others(30): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 187046546 | G | GGGATAAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0001 a0001c0001t0001g0091 a0001c0001t0001g0130 others(308): Show |
313 | 360 | 0.8694 | 9 | c.607 others(26): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |